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Jan Smeitink

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An I Jonckheere; Sander B Nabuurs; G Herma Renkema; Maaike Bras; Maaike C de Vries; Christian Gilissen; Alexander Hoischen; Martijn A Huynen; Jan A M Smeitink; Lambert P van den Heuvel; Richard J T Rodenburg
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Bernadette S Jakobs; Maaike C de Vries; Steffen Hien; Thomas Schaible; Roel J P Smeets; Jan A M Smeitink; Lambert P van den Heuvel; Ron A Wevers; SB Wortmann; Richard J T Rodenburg
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Megan E Breuer; Werner J H Koopman; Jan A M Smeitink; Peter H G M Willems; Marco Nooteboom
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.

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2013: An I Jonckheere; Sander B Nabuurs; G Herma Renkema; Maaike Bras; Maaike C de Vries; Christian Gilissen; Alexander Hoischen; Martijn A Huynen; Jan A M Smeitink; Lambert P van den Heuvel; Richard J T Rodenburg
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Brain : a journal of neurology 2013;136(Pt 5):1544-54.
2013: Bernadette S Jakobs; Maaike C de Vries; Steffen Hien; Thomas Schaible; Roel J P Smeets; Jan A M Smeitink; Lambert P van den Heuvel; Ron A Wevers; SB Wortmann; Richard J T Rodenburg
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Journal of the neurological sciences 2013;326(1-2):24-8.
2013: Megan E Breuer; Werner J H Koopman; Jan A M Smeitink; Peter H G M Willems; Marco Nooteboom
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.
IUBMB life 2013;65(3):202-8.
2013: Radek Szklarczyk; Mariël A M van den Brand; Joris A Veltman; Bas F J Wanschers; Peter H G M Willems; Johannes Zschocke; Nicola Dikow; Christian Gilissen; Marthe G M Hendriks-Franssen; Martijn A Huynen; Werner J H Koopman; Leo G Nijtmans; Marco Nooteboom; Richard J Rodenburg; Jan A M Smeitink; Lambertus P van den Heuvel
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Human molecular genetics 2013;22(4):656-67.
2013: Paul de Laat; Lambert P W J Vd Heuvel; Mirian C H Janssen; Saskia Koene; Richard J T Rodenburg; Jan A M Smeitink
Inheritance of the m.3243A>G mutation.
JIMD reports 2013;8():47-50.
2013: Saskia Koene; Eva Morava; Imelda J M de Groot; Maaike C de Vries; An I Jonckheere; SB Wortmann; Jan A M Smeitink
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?
Mitochondrion 2013;13(1):15-24.
2012: Felix Distelmaier; Marleen Forkink; Richard J T Rodenburg; Jan A M Smeitink; Herman G P Swarts; Federica Valsecchi; Sjenet van Emst-de Vries; Eugène T P Verwiel; Peter H G M Willems; Werner J H Koopman
Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells.
Antioxidants & redox signaling 2012;17(12):1657-69.
2012: Cindy E J Dieteren; Werner J H Koopman; Piotr Maczuga; Rosalinde Masereeuw; Leo G J Nijtmans; Janny G P Peters; Jan A M Smeitink; Herman G Swarts; Jasper J van Gemst; Peter H G M Willems
Subunit-specific incorporation efficiency and kinetics in mitochondrial complex I homeostasis.
The Journal of biological chemistry 2012;287(50):41851-60.
2012: Paul de Laat; Mirian C H Janssen; Saskia Koene; Richard J T Rodenburg; Lambert P W J van den Heuvel; Jan A M Smeitink
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
Journal of inherited metabolic disease 2012;35(6):1059-69.
2012: SB Wortmann; H Barth; Michael P Champion; Kate Craig; Martin Lammens; Richard J T Rodenburg; Michiel F Schreuder; Jan A M Smeitink; Robert W Taylor; B Trutnau; Lambert van Den Heuvel; Ron A Wevers; Eva Morava
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
European journal of medical genetics 2012;55(10):552-6.
2012: Federica Valsecchi; Sjenet E van Emst-De Vries; Be Wieringa; Giovanni Benard; Maria A Calvaruso; Ad J C de Groof; Marleen Forkink; Bavo Heeman; Werner J H Koopman; Claire Monge; Leo G J Nijtmans; Richard J Rodenburg; Peggy Roestenberg; Rodrigue Rossignol; Jan A M Smeitink; Herman G P Swarts; Peter H G M Willems
Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.
Biochimica et biophysica acta 2012;1817(10):1925-36.
2012: Saskia J G Hoefs; Richard J Rodenburg; Jan A M Smeitink; Lambert P van den Heuvel
Molecular base of biochemical complex I deficiency.
Mitochondrion 2012;12(5):520-32.
2012: Murtada H Farhoud; Antoon J M Janssen; Edwin Lasonder; Leo G J Nijtmans; Richard R J Rodenburg; Lambert P van den Heuvel; Ronald J A Wanders; Hans J C T Wessels; Jan A M Smeitink
Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.
Proteomics 2012;12(9):1349-62.
2012: Werner J H Koopman; Peter H G M Willems; Jan A M Smeitink
Monogenic mitochondrial disorders.
The New England journal of medicine 2012;366(12):1132-41.
2012: An I Jonckheere; Jan A M Smeitink; Richard J T Rodenburg
Mitochondrial ATP synthase: architecture, function and pathology.
Journal of inherited metabolic disease 2012;35(2):211-25.
2012: Megan E Breuer; Werner J H Koopman; Frans G M Russel; Peter H G M Willems; Jan A M Smeitink
Modeling mitochondrial dysfunctions in the brain: from mice to men.
Journal of inherited metabolic disease 2012;35(2):193-210.
2012: Jessica Nouws; Jan A M Smeitink; Leo G J Nijtmans; Rutger O Vogel
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.
Brain : a journal of neurology 2012;135(Pt 1):12-22.
2012: Peggy Roestenberg; Jan A M Smeitink; Federica Valsecchi; Peter H G M Willems; Ganesh Ramesh Manjeri; Werner J H Koopman
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond.
Mitochondrion 2012;12(1):57-65.
2011: Cindy E J Dieteren; Jack Fransen; Werner J H Koopman; Jan A M Smeitink; Herman G P Swarts; Peter H G M Willems; Leo G J Nijtmans
Defective mitochondrial translation differently affects the live cell dynamics of complex I subunits.
Biochimica et biophysica acta 2011;1807(12):1624-33.
2011: An I Jonckheere; Werner J H Koopman; Martin Lammens; Marleen Forkink; Jack A Fransen; Merei Huigsloot; Martijn A Huynen; Jitske Jansen; Jan A M Smeitink; Ute Spiekerkoetter; Radek Szklarczyk; Lambert P van den Heuvel; Jürgen-Christoph von Kleist-Retzow; Richard J T Rodenburg
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
Mitochondrion 2011;11(6):954-63.
2011: Dania C Liemburg-Apers; Marco Nooteboom; Jan A M Smeitink; Herman G Swarts; Peter H G M Willems; Roland Brock; Marleen Forkink; Hiromi Imamura; Werner J H Koopman
Quantitative glucose and ATP sensing in mammalian cells.
Pharmaceutical research 2011;28(11):2745-57.
2011: Maria Antonietta Calvaruso; Richard J T Rodenburg; Jan A M Smeitink; Mariël van den Brand; Michel A Willemsen; Leo G J Nijtmans
New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS).
Mitochondrion 2011;11(5):778-82.
2011: Cindy E J Dieteren; Stan C A M Gielen; Leo G J Nijtmans; Jan A M Smeitink; Herman G P Swarts; Roland Brock; Peter H G M Willems; Werner J H Koopman
Solute diffusion is hindered in the mitochondrial matrix.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(21):8657-62.
2011: Merei Huigsloot; Leo G J Nijtmans; Radek Szklarczyk; Marieke J H Baars; Mariël A M van den Brand; Marthe G M Hendriksfranssen; Lambertus P van den Heuvel; Jan A M Smeitink; Martijn A Huynen; Richard J T Rodenburg
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
American journal of human genetics 2011;88(4):488-93.
2011: Oksana Levanets; Fimmie Reinecke; Roan Louw; Pieter J Pretorius; Lissinda H du Plessis; Leo Nijtmans; Jan A M Smeitink; Francois H van der Westhuizen
Mitochondrial DNA replication and OXPHOS gene transcription show varied responsiveness to Rieske protein knockdown in 143B cells.
Biochimie 2011;93(4):758-65.
2011: Paulien Smits; Ann Saada (Reisch); SB Wortmann; Angelien J Heister; Maaike Brink; Rolph Pfundt; Chaya Miller; Dorothea Haas; Ralph Hantschmann; Richard J T Rodenburg; Jan A M Smeitink; Lambert P van den Heuvel
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
European journal of human genetics : EJHG 2011;19(4):394-9.
2011: Saskia Koene; Peter H G M Willems; Peggy Roestenberg; Werner J H Koopman; Jan A M Smeitink
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency.
Journal of inherited metabolic disease 2011;34(2):293-307.
2011: Saskia J G Hoefs; Francjan J van Spronsen; Ellen W H Lenssen; Leo G J Nijtmans; Richard J T Rodenburg; Jan A M Smeitink; Lambert P van den Heuvel
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
European journal of human genetics : EJHG 2011;19(3):270-4.
2011: Paulien Smits; Hana Antonicka; Peter M van Hasselt; Woranontee Weraarpachai; Wolfram Haller; Marco W Schreurs; Hanka Venselaar; Richard J T Rodenburg; Jan A M Smeitink; Lambert P van den Heuvel
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
European journal of human genetics : EJHG 2011;19(3):275-9.
2011: Tjitske Kleefstra; SB Wortmann; Richard J T Rodenburg; Ernie M H F Bongers; Kinga Hadzsiev; C Noordam; Lambert P van den Heuvel; Willy M Nillesen; Katalin Hollody; Gabriele Gillessen-Kaesbach; Martin Lammens; Jan A M Smeitink; Ineke van der Burgt; Eva Morava
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
European journal of human genetics : EJHG 2011;19(2):138-44.
2010: Jessica Nouws; Leo G J Nijtmans; Sander M Houten; Mariël van den Brand; Martijn A Huynen; Hanka Venselaar; Saskia Hoefs; Jolein Gloerich; Jonathan Kronick; Timothy Hutchin; Peter Willems; Richard J T Rodenburg; Ronald Wanders; Lambert van Den Heuvel; Jan A M Smeitink; Rutger O Vogel
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
Cell metabolism 2010;12(3):283-94.
2010: Hana Antonicka; Elsebet Ostergaard; Florin Sasarman; Woranontee Weraarpachai; Flemming Wibrand; Anne Marie B Pedersen; Richard J T Rodenburg; Marjo S van der Knaap; Jan A M Smeitink; Zofia M Chrzanowska-Lightowlers; Eric A Shoubridge
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
American journal of human genetics 2010;87(1):115-22.
2010: Saskia J G Hoefs; Ola H Skjeldal; Richard J T Rodenburg; Bård Nedregaard; Edwin P M van Kaauwen; Ute Spiekerkötter; Jürgen-Christoph von Kleist-Retzow; Jan A M Smeitink; Leo G J Nijtmans; Lambert P van den Heuvel
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
Molecular genetics and metabolism 2010;100(3):251-6.
2010: Werner J H Koopman; Leo G J Nijtmans; Cindy E J Dieteren; Peggy Roestenberg; Federica Valsecchi; Jan A M Smeitink; Peter H G M Willems
Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation.
Antioxidants & redox signaling 2010;12(12):1431-70.
2010: Federica Valsecchi; Werner J H Koopman; Ganesh Ramesh Manjeri; Richard J Rodenburg; Jan A M Smeitink; Peter H G M Willems
Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level.
Developmental disabilities research reviews 2010;16(2):175-82.
2010: Marleen Forkink; Jan A M Smeitink; Roland Brock; Peter H G M Willems; Werner J H Koopman
Detection and manipulation of mitochondrial reactive oxygen species in mammalian cells.
Biochimica et biophysica acta 2010;1797(6-7):1034-44.
2010: An I Jonckheere; Merei Huigsloot; Antoon J M Janssen; Antonia J H Kappen; Jan A M Smeitink; Richard J T Rodenburg
High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.
Clinical chemistry 2010;56(3):424-31.
2009: Fimmie Reinecke; Jan A M Smeitink; Francois H van der Westhuizen
OXPHOS gene expression and control in mitochondrial disorders.
Biochimica et biophysica acta 2009;1792(12):1113-21.
2009: Peter H G M Willems; Jan A M Smeitink; Werner J H Koopman
Mitochondrial dynamics in human NADH:ubiquinone oxidoreductase deficiency.
The international journal of biochemistry & cell biology 2009;41(10):1773-82.
2009: Rolf J R J Janssen; Felix Distelmaier; Roel Smeets; Tessa Wijnhoven; Elsebet Østergaard; Nicolaas G J Jaspers; Anja Raams; Stephan Kemp; Richard J T Rodenburg; Peter H G M Willems; Lambert P van den Heuvel; Jan A M Smeitink; Leo G J Nijtmans
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
Human molecular genetics 2009;18(18):3365-74.
2009: Hans J C T Wessels; Rutger O Vogel; Lambert van Den Heuvel; Jan A M Smeitink; Richard J T Rodenburg; Leo G J Nijtmans; Murtada H Farhoud
LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.
Proteomics 2009;9(17):4221-8.
2009: Saskia J G Hoefs; Cindy E J Dieteren; Richard J T Rodenburg; Karin Naess; Helene Bruhn; Rolf Wibom; Esther Wagena; Peter H Willems; Jan A M Smeitink; Leo G J Nijtmans; Lambert P van den Heuvel
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.
Human mutation 2009;30(7):E728-36.
2009: Ann Saada (Reisch); Rutger O Vogel; Saskia J Hoefs; Mariël A van den Brand; Hans J Wessels; Peter H G M Willems; Hanka Venselaar; Avraham Shaag; Flora Barghuti; Orit Reish; Mordechai Shohat; Martijn A Huynen; Jan A M Smeitink; Lambert P van den Heuvel; Leo G J Nijtmans
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
American journal of human genetics 2009;84(6):718-27.
2009: C Noordam; Vivek Dhir; Joanne C McNelis; Florian Schlereth; Neil A Hanley; Nils Krone; Jan A M Smeitink; Roel Smeets; Fred C G J Sweep; Hedi L Claahsen-van der Grinten; Wiebke Arlt
Inactivating PAPSS2 mutations in a patient with premature pubarche.
The New England journal of medicine 2009;360(22):2310-8.
2009: Felix Distelmaier; Henk-Jan Visch; Jan A M Smeitink; Ertan Mayatepek; Werner J H Koopman; Peter H G M Willems
The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency.
Journal of molecular medicine (Berlin, Germany) 2009;87(5):515-22.
2009: J H Willis; R A Capaldi; M Huigsloot; R J T Rodenburg; Jan A M Smeitink; M F Marusich
Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays.
Biochimica et biophysica acta 2009;1787(5):533-8.
2009: Riekelt H Houtkooper; Richard J Rodenburg; Charlotte Thiels; Henk van Lenthe; Femke Stet; Bwee Tien Poll-The; Janet E Stone; Colin G Steward; Ronald J Wanders; Jan A M Smeitink; Willem Kulik; Frédéric M Vaz
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.
Analytical biochemistry 2009;387(2):230-7.
2009: Felix Distelmaier; Werner J H Koopman; Lambertus P van den Heuvel; Richard J T Rodenburg; Ertan Mayatepek; Peter H G M Willems; Jan A M Smeitink
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
Brain : a journal of neurology 2009;132(Pt 4):833-42.
2009: S Koene; T L Kozicz; Richard J T Rodenburg; Chris Verhaak; M C de Vries; S Wortmann; L van de Heuvel; Jan A M Smeitink; Eva Morava
Major depression in adolescent children consecutively diagnosed with mitochondrial disorder.
Journal of affective disorders 2009;114(1-3):327-32.
2009: Saskia B Wortmann; Heidi Zweers-van Essen; Richard J T Rodenburg; Lambert P van den Heuvel; Maaike C de Vries; Ellen Rasmussen-Conrad; Jan A M Smeitink; Eva Morava
Mitochondrial energy production correlates with the age-related BMI.
Pediatric research 2009;65(1):103-8.
2009: SB Wortmann; Richard J T Rodenburg; An Jonckheere; Maaike C de Vries; Marjan Huizing; Katrin Heldt; Lambert P van den Heuvel; Udo Wendel; Leo A J Kluijtmans; Udo F Engelke; Ron A Wevers; Jan A M Smeitink; Eva Morava
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Brain : a journal of neurology 2009;132(Pt 1):136-46.
2008: Rosa Pello; Miguel A Martín; Valerio Carelli; Leo G Nijtmans; Alessandro Achilli; Maria Pala; Antonio Torroni; Aurora Gómez-Durán; Eduardo Ruiz-Pesini; Andrea Martinuzzi; Jan A M Smeitink; Joaquín Arenas; Cristina Ugalde
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.
Human molecular genetics 2008;17(24):4001-11.
2008: Cindy E J Dieteren; Peter H G M Willems; Rutger O Vogel; Herman G Swarts; Jack Fransen; Ronald Roepman; Gijs Crienen; Jan A M Smeitink; Leo G J Nijtmans; Werner J H Koopman
Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells.
The Journal of biological chemistry 2008;283(50):34753-61.
2008: Despina Contopoulos-Ioannidis; Athanasios Evangeliou; Henk ter Laak; Bert de Vries; Rolph Pfundt; Hans Scheffer; Jan A M Smeitink; Meropi Tzoufi; Alexandros Makis; Evangelos Marinos; Richard Hess; David Adams; Marjan Huizing; Eva Morava
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
American journal of medical genetics. Part A 2008;146A(23):3100-3.
2008: Werner J H Koopman; Felix Distelmaier; John J Esseling; Jan A M Smeitink; Peter H G M Willems
Computer-assisted live cell analysis of mitochondrial membrane potential, morphology and calcium handling.
Methods (San Diego, Calif.) 2008;46(4):304-11.
2008: Maaike C de Vries; G Christoph Korenke; M Lammens; Eva Morava; Richard J T Rodenburg; Lambert P van den Heuvel; Jan A M Smeitink
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.
Journal of inherited metabolic disease 2008;31 Suppl 2():S299-302.
2008: Heather Mortiboys; Kelly Jean Thomas; Werner J H Koopman; Stefanie Klaffke; Patrick M Abou-Sleiman; Simon Olpin; Nicholas W Wood; Peter H G M Willems; Jan A M Smeitink; Mark Cookson; Oliver Bandmann
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts.
Annals of neurology 2008;64(5):555-65.
2008: Bart W Smits; Jan A M Smeitink; B G M van Engelen
[Mitochondrial diseases; thinking beyond organ specialism necessary].
Nederlands tijdschrift voor geneeskunde 2008;152(42):2275-81.
2008: Joanna Rorbach; Ricarda Richter; Hans J Wessels; Mateusz Wydro; Marcin Lukasz Pekalski; Murtada Farhoud; Inge Kühl; Mauricette Gaisne; Nathalie Bonnefoy; Jan A M Smeitink; Robert N Lightowlers; Zofia M A Chrzanowska-Lightowlers
The human mitochondrial ribosome recycling factor is essential for cell viability.
Nucleic acids research 2008;36(18):5787-99.
2008: Guido Engelmann; Jochen Meyburg; N Shahbek; M Al-Ali; M H Hairetis; A J Baker; R J T Rodenburg; D Wenning; Christa Flechtenmacher; S Ellard; Jan A M Smeitink; Georg F Hoffmann; C R Buchanan
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome.
Journal of inherited metabolic disease 2008;31(4):540-6.
2008: Werner J H Koopman; Sjoerd Verkaart; Sjenet E van Emst-De Vries; Sander Grefte; Jan A M Smeitink; Leo G J Nijtmans; Peter H G M Willems
Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.
Biochimica et biophysica acta 2008;1777(7-8):853-9.
2008: Peter H G M Willems; Federica Valsecchi; Felix Distelmaier; Sjoerd Verkaart; Henk-Jan Visch; Jan A M Smeitink; Werner J H Koopman
Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.
Cell calcium 2008;44(1):123-33.
2008: Saskia J G Hoefs; Cindy E J Dieteren; Felix Distelmaier; Rolf J R J Janssen; Andrea Epplen; Herman G P Swarts; Marleen Forkink; Richard J T Rodenburg; Leo G J Nijtmans; Peter H G M Willems; Jan A M Smeitink; Lambert P van den Heuvel
NDUFA2 complex I mutation leads to Leigh disease.
American journal of human genetics 2008;82(6):1306-15.
2008: Werner J H Koopman; Felix Distelmaier; Mark A Hink; Sjoerd Verkaart; Mietske Wijers; Jack Fransen; Jan A M Smeitink; Peter H G M Willems
Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria.
American journal of physiology. Cell physiology 2008;294(5):C1124-32.
2008: Antoon J M Janssen; Markus Schuelke; Jan A M Smeitink; Frans J M Trijbels; Rob C A Sengers; Barbara Lucke; Liesbeth T M Wintjes; Eva Morava; B G M van Engelen; Bart W Smits; Frans A Hol; Marloes H Siers; Henk ter Laak; Marjo S van der Knaap; Francjan J van Spronsen; Richard J T Rodenburg; Lambert P van den Heuvel
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
Annals of neurology 2008;63(4):473-81.
2008: Giuseppe Gasparre; Eric Hervouet; Elodie de Laplanche; Jocelyne Demont; Lucia Fiammetta Pennisi; Marc Colombel; Florence Mège-Lechevallier; Jean-Yves Scoazec; Elena Bonora; Roel Smeets; Jan A M Smeitink; Vladimir Lazar; James Lespinasse; Sophie Giraud; Catherine Godinot; Giovanni Romeo; Hélène Simonnet
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.
Human molecular genetics 2008;17(7):986-95.
2008: A I Jonckheere; M Hogeveen; L G J Nijtmans; M A M van den Brand; A J M Janssen; J H S Diepstra; F C A van den Brandt; L P van den Heuvel; F A Hol; T G J Hofste; L Kapusta; U Dillmann; M G Shamdeen; Jan A M Smeitink; R J T Rodenburg
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Journal of medical genetics 2008;45(3):129-33.
2008: Felix Distelmaier; Werner J H Koopman; Epifania R Testa; Arjan S de Jong; Herman G P Swarts; Ertan Mayatepek; Jan A M Smeitink; Peter H G M Willems
Life cell quantification of mitochondrial membrane potential at the single organelle level.
Cytometry. Part A : the journal of the International Society for Analytical Cytology 2008;73(2):129-38.
2007: JC Komen; Felix Distelmaier; Werner J H Koopman; R J A Wanders; Jan A M Smeitink; Peter H G M Willems
Phytanic acid impairs mitochondrial respiration through protonophoric action.
Cellular and molecular life sciences : CMLS 2007;64(24):3271-81.
2007: Rutger O Vogel; Jan A M Smeitink; Leo G J Nijtmans
Human mitochondrial complex I assembly: a dynamic and versatile process.
Biochimica et biophysica acta 2007;1767(10):1215-27.
2007: Sjoerd Verkaart; Werner J H Koopman; Julia Cheek; Sjenet E van Emst-De Vries; Lambertus W P J van den Heuvel; Jan A M Smeitink; Peter H G M Willems
Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency.
Biochimica et biophysica acta 2007;1772(9):1041-51.
2007: Werner J H Koopman; Mark A Hink; Sjoerd Verkaart; Henk-Jan Visch; Jan A M Smeitink; Peter H G M Willems
Partial complex I inhibition decreases mitochondrial motility and increases matrix protein diffusion as revealed by fluorescence correlation spectroscopy.
Biochimica et biophysica acta 2007;1767(7):940-7.
2007: Werner J H Koopman; Sjoerd Verkaart; Henk-Jan Visch; Sjenet E van Emst-De Vries; Leo G J Nijtmans; Jan A M Smeitink; Peter H G M Willems
Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?
American journal of physiology. Cell physiology 2007;293(1):C22-9.
2007: K Lohmeier; Felix Distelmaier; L P van den Heuvel; Richard J T Rodenburg; Jan A M Smeitink; Ertan Mayatepek; Thomas Hoehn
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency.
Neuropediatrics 2007;38(3):148-50.
2007: Rutger O Vogel; Mariël A M van den Brand; Richard J T Rodenburg; Lambert P van den Heuvel; Makoto Tsuneoka; Jan A M Smeitink; Leo G J Nijtmans
Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
Molecular genetics and metabolism 2007;91(2):176-82.
2007: P Hameleers-Snijders; Marije Hogeveen; Jan A M Smeitink; Cornelis Kramers; Jos M Th Draaisma
[Risk of acute hepatic insufficiency in children due to chronic accidental overdose of paracetamol (acetaminophen)].
Nederlands tijdschrift voor geneeskunde 2007;151(16):897-900.
2007: Gert C Scheper; Thom van der Klok; Rob J van Andel; Carola G M van Berkel; Marie Sissler; Joél Smet; Tatjana I Muravina; Sergey V Serkov; Graziella Uziel; Marianna Bugiani; Raphael Schiffmann; Ingeborg Krägeloh-Mann; Jan A M Smeitink; Catherine Florentz; Rudy Van Coster; Jan C Pronk; Marjo S van der Knaap
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Nature genetics 2007;39(4):534-9.
2007: Antoon J M Janssen; Frans J M Trijbels; Rob C A Sengers; Jan A M Smeitink; Lambert P van den Heuvel; Liesbeth T M Wintjes; Berendien J M Stoltenborg-Hogenkamp; Richard J T Rodenburg
Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.
Clinical chemistry 2007;53(4):729-34.
2007: Rutger O Vogel; Cindy E J Dieteren; Lambert P van den Heuvel; Peter H G M Willems; Jan A M Smeitink; Werner J H Koopman; Leo G J Nijtmans
Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.
The Journal of biological chemistry 2007;282(10):7582-90.
2007: SB Wortmann; Richard J T Rodenburg; Ad Backx; E Schmitt; Jan A M Smeitink; Eva Morava
Early cardiac involvement in children carrying the A3243G mtDNA mutation.
Acta paediatrica (Oslo, Norway : 1992) 2007;96(3):450-1.
2007: Rutger O Vogel; Rolf J R J Janssen; Mariël A M van den Brand; Cindy E J Dieteren; Sjoerd Verkaart; Werner J H Koopman; Peter H G M Willems; Wendy Pluk; Lambert P van den Heuvel; Jan A M Smeitink; Leo G J Nijtmans
Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.
Genes & development 2007;21(5):615-24.
2007: Baskaran Govindarajan; James E Sligh; Bethaney J Vincent; Meiling Li; Jeffrey A Canter; Brian J Nickoloff; Richard J Rodenburg; Jan A M Smeitink; Larry Oberley; Yuping Zhang; Joyce M Slingerland; Rebecca S Arnold; David J. Lambeth; Cynthia Cohen; Lula Hilenski; Kathy K Griendling; Marta Martínez-Diez; José M Cuezva; Jack L Arbiser
Overexpression of Akt converts radial growth melanoma to vertical growth melanoma.
The Journal of clinical investigation 2007;117(3):719-29.
2007: Sjoerd Verkaart; Werner J H Koopman; Sjenet E van Emst-De Vries; Leo G J Nijtmans; Lambertus W P J van den Heuvel; Jan A M Smeitink; Peter H G M Willems
Superoxide production is inversely related to complex I activity in inherited complex I deficiency.
Biochimica et biophysica acta 2007;1772(3):373-81.
2007: Maaike C de Vries; Richard J T Rodenburg; Eva Morava; Edwin P M van Kaauwen; Henk ter Laak; Reinier A Mullaart; Irina N Snoeck; Peter M van Hasselt; Peter Harding; Lambert P van den Heuvel; Jan A M Smeitink
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
European journal of pediatrics 2007;166(3):229-34.
2007: Jolein Gloerich; Ron A Wevers; Jan A M Smeitink; B G M van Engelen; Lambert P van den Heuvel
Proteomics approaches to study genetic and metabolic disorders.
Journal of proteome research 2007;6(2):506-12.
2007: E Mariken Ruiter; Marloes H Siers; Christa van den Elzen; B G M van Engelen; Jan A M Smeitink; Richard J T Rodenburg; Frans A Hol
The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.
European journal of human genetics : EJHG 2007;15(2):155-61.
2007: Paulien Smits; Jan A M Smeitink; Lambert P van den Heuvel; Martijn A Huynen; Thijs J G Ettema
Reconstructing the evolution of the mitochondrial ribosomal proteome.
Nucleic acids research 2007;35(14):4686-703.
2007: SB Wortmann; Richard J T Rodenburg; B Schwahn; Jan A M Smeitink; Eva Morava
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.
Genetic counseling (Geneva, Switzerland) 2007;18(1):119-23.
2007: Daniel Fernandez-Moreira; Cristina Ugalde; Roel Smeets; Richard J T Rodenburg; Eduardo Lopez-Laso; Maria L Ruiz-Falco; Paz Briones; Miguel A Martin; Jan A M Smeitink; Joaquín Arenas
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
Annals of neurology 2007;61(1):73-83.
2007: Cristina Ugalde; Reetta Hinttala; Sharita Timal; Roel Smeets; Richard J T Rodenburg; Johanna Uusimaa; Lambert P van Heuvel; Leo G J Nijtmans; Kari Majamaa; Jan A M Smeitink
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.
Molecular genetics and metabolism 2007;90(1):10-4.
2006: C Phoenix; Andrew M Schaefer; Joanna Elson; Eva Morava; M Bugiani; Graziella Uziel; Jan A M Smeitink; Douglass M Turnbull; Robert McFarland
A scale to monitor progression and treatment of mitochondrial disease in children.
Neuromuscular disorders : NMD 2006;16(12):814-20.
2006: Werner J H Koopman; Sjoerd Verkaart; Sjenet E van Emst-De Vries; Sander Grefte; Jan A M Smeitink; Peter H G M Willems
Simultaneous quantification of oxidative stress and cell spreading using 5-(and-6)-chloromethyl-2',7'-dichlorofluorescein.
Cytometry. Part A : the journal of the International Society for Analytical Cytology 2006;69(12):1184-92.
2006: Eva Morava; Lambert van Den Heuvel; Frans A Hol; Maaike C de Vries; Marije Hogeveen; Richard J T Rodenburg; Jan A M Smeitink
Mitochondrial disease criteria: diagnostic applications in children.
Neurology 2006;67(10):1823-6.
2006: Jan A M Smeitink; Orly Elpeleg; Hana Antonicka; Heleen Diepstra; Ann Saada (Reisch); Paulien Smits; Florin Sasarman; Gert Vriend; Jasmine Jacob-Hirsch; Avraham Shaag; Gideon Rechavi; Brigitte Welling; Jurgen Horst; Richard J T Rodenburg; Bert van den Heuvel; Eric A Shoubridge
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
American journal of human genetics 2006;79(5):869-77.
2006: Reetta Hinttala; Roel Smeets; Jukka S Moilanen; Cristina Ugalde; Johanna Uusimaa; Jan A M Smeitink; Kari Majamaa
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.
Journal of medical genetics 2006;43(11):881-6.
2006: Marina A Schwab; Sven W Sauer; Jürgen G Okun; Leo G J Nijtmans; Richard J T Rodenburg; Lambert P van den Heuvel; Stefan Dröse; Ulrich Brandt; Georg F Hoffmann; Henk ter Laak; Stefan Kölker; Jan A M Smeitink
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.
The Biochemical journal 2006;398(1):107-12.
2006: Rolf J R J Janssen; Leo G J Nijtmans; Lambert P van den Heuvel; Jan A M Smeitink
Mitochondrial complex I: structure, function and pathology.
Journal of inherited metabolic disease 2006;29(4):499-515.
2006: Henk-Jan Visch; Werner J H Koopman; Dimphy Zeegers; Sjenet E van Emst-De Vries; Frank J M van Kuppeveld; Lambertus W P J van den Heuvel; Jan A M Smeitink; Peter H G M Willems
Ca2+-mobilizing agonists increase mitochondrial ATP production to accelerate cytosolic Ca2+ removal: aberrations in human complex I deficiency.
American journal of physiology. Cell physiology 2006;291(2):C308-16.
2006: Marieke Coenen; Jan A M Smeitink; Jeanette M Pots; Edwin van Kaauwen; Frans J M Trijbels; Frans A Hol; Lambert P van den Heuvel
Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.
Journal of child neurology 2006;21(6):508-11.
2006: H Vlaardingerbroek; Gerard Hornstra; Tom J de Koning; Jan A M Smeitink; H D Bakker; H B C de Klerk; M Estela Rubio-Gozalbo
Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism.
Molecular genetics and metabolism 2006;88(2):159-65.
2006: Antoon J M Janssen; Frans J M Trijbels; Rob C A Sengers; Liesbeth T M Wintjes; Wim Ruitenbeek; Jan A M Smeitink; Eva Morava; B G M van Engelen; Lambert P van den Heuvel; Richard J T Rodenburg
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
Clinical chemistry 2006;52(5):860-71.
2006: SB Wortmann; Richard J T Rodenburg; Marjan Huizing; Ference J Loupatty; Tom J de Koning; Leo A J Kluijtmans; Udo F H Engelke; Ron A Wevers; Jan A M Smeitink; Eva Morava
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Molecular genetics and metabolism 2006;88(1):47-52.
2006: Fimmie Reinecke; Oksana Levanets; Yolanda Olivier; Roan Louw; Boitumelo Semete; Anne Grobler; Juan Hidalgo; Jan A M Smeitink; Antonel Olckers; Francois H van der Westhuizen
Metallothionein isoform 2A expression is inducible and protects against ROS-mediated cell death in rotenone-treated HeLa cells.
The Biochemical journal 2006;395(2):405-15.
2006: Marieke Coenen; Jan A M Smeitink; Murtada H Farhoud; Leo G J Nijtmans; Richard J T Rodenburg; Antoon Janssen; E P M van Kaauwen; Frans J M Trijbels; Lambert P van den Heuvel
The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.
Journal of inherited metabolic disease 2006;29(1):212-3.
2006: Jan A M Smeitink; Massimo Zeviani; Douglass M Turnbull; Howard T Jacobs
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders.
Cell metabolism 2006;3(1):9-13.
2006: Werner J H Koopman; Henk-Jan Visch; Jan A M Smeitink; Peter H G M Willems
Simultaneous quantitative measurement and automated analysis of mitochondrial morphology, mass, potential, and motility in living human skin fibroblasts.
Cytometry. Part A : the journal of the International Society for Analytical Cytology 2006;69(1):1-12.
2006: Henk-Jan Visch; Werner J H Koopman; Anouk Leusink; Sjenet E van Emst-De Vries; Lambertus W P J van den Heuvel; Peter H G M Willems; Jan A M Smeitink
Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency.
Biochimica et biophysica acta 2006;1762(1):115-23.
2005: Murtada H Farhoud; Hans J C T Wessels; Ron A Wevers; B G M van Engelen; Lambert P van den Heuvel; Jan A M Smeitink
Serial isoelectric focusing as an effective and economic way to obtain maximal resolution and high-throughput in 2D-based comparative proteomics of scarce samples: proof-of-principle.
Journal of proteome research 2005;4(6):2364-8.
2005: Murtada H Farhoud; Hans J C T Wessels; Peter J M Steenbakkers; Sandy Mattijssen; Ron A Wevers; B G M van Engelen; Mike S.M. Jetten; Jan A M Smeitink; Lambert P van den Heuvel; Jan T Keltjens
Protein complexes in the archaeon Methanothermobacter thermautotrophicus analyzed by blue native/SDS-PAGE and mass spectrometry.
Molecular & cellular proteomics : MCP 2005;4(11):1653-63.
2005: Rutger O Vogel; Rolf J R J Janssen; Cristina Ugalde; Melissa Grovenstein; Richard Huijbens; Henk-Jan Visch; Lambert P van den Heuvel; Peter H G M Willems; Massimo Zeviani; Jan A M Smeitink; Leo G J Nijtmans
Human mitochondrial complex I assembly is mediated by NDUFAF1.
The FEBS journal 2005;272(20):5317-26.
2005: Werner J H Koopman; Henk-Jan Visch; Sjoerd Verkaart; Lambertus W P J van den Heuvel; Jan A M Smeitink; Peter H G M Willems
Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.
American journal of physiology. Cell physiology 2005;289(4):C881-90.
2005: Eva Morava; A Dinopoulos; H Y Kroes; Richard J T Rodenburg; Hans van Bokhoven; Lambert P van den Heuvel; Jan A M Smeitink
Mitochondrial dysfunction in a patient with Joubert syndrome.
Neuropediatrics 2005;36(3):214-7.
2005: Werner J H Koopman; Sjoerd Verkaart; Henk-Jan Visch; Francois H van der Westhuizen; Michael P Murphy; Lambertus W P J van den Heuvel; Jan A M Smeitink; Peter H G M Willems
Inhibition of complex I of the electron transport chain causes O2-. -mediated mitochondrial outgrowth.
American journal of physiology. Cell physiology 2005;288(6):C1440-50.
2005: Marieke Coenen; Jan A M Smeitink; Roel Smeets; Frans J M Trijbels; Lambert P van den Heuvel
Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system.
Journal of inherited metabolic disease 2005;28(6):1091-7.
2005: Marina A Schwab; Stefan Kölker; Lambert P van den Heuvel; Sven W Sauer; Nicole I Wolf; Dietz Rating; Georg F Hoffmann; Jan A M Smeitink; Jürgen G Okun
Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts.
Clinical chemistry 2005;51(1):151-60.
2004: Jan A M Smeitink; Howard T Jacobs
The Euromit meetings: an international platform for the understanding and combat of mitochondrial disease.
Biochimica et biophysica acta 2004;1659(2-3):105-6.
2004: Marieke Coenen; Hana Antonicka; Cristina Ugalde; Florin Sasarman; Rainer Rossi; J G A M Angelien Heister; Robert F Newbold; Frans J M Trijbels; Lambert P van den Heuvel; Eric A Shoubridge; Jan A M Smeitink
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
The New England journal of medicine 2004;351(20):2080-6.
2004: Marieke Coenen; Lambert P van den Heuvel; Cristina Ugalde; Marike Ten Brinke; Leo G J Nijtmans; Frans J M Trijbels; Skadi Beblo; Esther M Maier; Ania C Muntau; Jan A M Smeitink
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
Annals of neurology 2004;56(4):560-4.
2004: Aniek O de Graaf; Lambert P van den Heuvel; Henry B P M Dijkman; Ronney A De Abreu; Kim U Birkenkamp; Theo de Witte; Bert A van der Reijden; Jan A M Smeitink; Joop H Jansen
Bcl-2 prevents loss of mitochondria in CCCP-induced apoptosis.
Experimental cell research 2004;299(2):533-40.
2004: Henk-Jan Visch; Guy A Rutter; Werner J H Koopman; Jan B Koenderink; Sjoerd Verkaart; Theun de Groot; Aniko Varadi; Kathryn J Mitchell; Lambert P van den Heuvel; Jan A M Smeitink; Peter H G M Willems
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
The Journal of biological chemistry 2004;279(39):40328-36.
2004: Lambert P van den Heuvel; Jan A M Smeitink; Richard J T Rodenburg
Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects.
Mitochondrion 2004;4(5-6):395-401.
2004: Jeannette Gootjes; Frank Schmohl; Petra A W Mooijer; Conny Dekker; Hanna Mandel; Meral Topcu; Martina Huemer; M Von Schütz; Thorsten Marquardt; Jan A M Smeitink; Hans R Waterham; Ronald J A Wanders
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.
Human mutation 2004;24(2):130-9.
2004: Els Schollen; Christian G Frank; Liesbeth Keldermans; R Reyntjens; Claudia E Grubenmann; Peter T Clayton; Bryan Winchester; Jan A M Smeitink; Ron A Wevers; Markus Aebi; Thierry Hennet; Gert Matthijs
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
Journal of medical genetics 2004;41(7):550-6.
2004: Johanna M P Van den Hout; Joep H J Kamphoven; Léon P F Winkel; W F M Arts; J B C de Klerk; M Christa B Loonen; Arnold G Vulto; Adri Cromme-Dijkhuis; Nynke Weisglas-Kuperus; Wim Hop; Hans Van Hirtum; Otto P van Diggelen; Marijke A Boer; Marian A Kroos; Pieter A Van Doorn; Edwin Van der Voort; Barbara Sibbles; Emiel J J M Van Corven; Just P J Brakenhoff; Johan L K Van Hove; Jan A M Smeitink; Gerard de Jong; Arnold J J Reuser; Ans T Van Der Ploeg
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
Pediatrics 2004;113(5):e448-57.
2004: Cristina Ugalde; Rolf J R J Janssen; Lambert P van den Heuvel; Jan A M Smeitink; Leo G J Nijtmans
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
Human molecular genetics 2004;13(6):659-67.
2004: Rolf J R J Janssen; Lambert P van den Heuvel; Jan A M Smeitink
Genetic defects in the oxidative phosphorylation (OXPHOS) system.
Expert review of molecular diagnostics 2004;4(2):143-56.
2004: Peter G Barth; Charles B L M Majoie; Jeannette Gootjes; R J A Wanders; Hans R Waterham; M S van der Knaap; J B C de Klerk; Jan A M Smeitink; Bwee Tien Poll-The
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.
Neurology 2004;62(3):439-44.
2004: Jan A M Smeitink; Lambertus W P J van den Heuvel; Werner J H Koopman; Leo G J Nijtmans; Cristina Ugalde; Peter H G M Willems
Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency.
Current neurovascular research 2004;1(1):29-40.
2004: A B C Roeleveld-Versteegh; Kees P J Braun; Jan A M Smeitink; Lambertus Dorland; Tom J de Koning
Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood.
Journal of inherited metabolic disease 2004;27(2):281-3.
2004: Udo F H Engelke; Maria L F Liebrand-van Sambeek; Jan G N de Jong; Jules G Leroy; Eva Morava; Jan A M Smeitink; Ron A Wevers
N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.
Clinical chemistry 2004;50(1):58-66.
2003: Stefan Kölker; Marina Schwab; Friederike Hörster; Sven W Sauer; Angela Hinz; Nicole I Wolf; Ertan Mayatepek; Georg F Hoffmann; Jan A M Smeitink; Jürgen G Okun
Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain.
The Journal of biological chemistry 2003;278(48):47388-93.
2003: Salvatore Scacco; Vittoria Petruzzella; S M S Budde; Rosaria Vergari; Rosanna Tamborra; Damiano Panelli; Lambert P van den Heuvel; Jan A M Smeitink; Sergio Papa
Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex.
The Journal of biological chemistry 2003;278(45):44161-7.
2003: Cristina Ugalde; Ralf H Triepels; Marieke Coenen; Lambert P van den Heuvel; Roel Smeets; Johanna Uusimaa; Paz Briones; Jaume Campistol; Kari Majamaa; Jan A M Smeitink; Leo G J Nijtmans
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
Annals of neurology 2003;54(5):665-9.
2003: Hannerieke M P van den Hout; Wim Hop; Otto P van Diggelen; Jan A M Smeitink; G Peter A Smit; Bwee-Tien T Poll-The; Henk D Bakker; M Christa B Loonen; J B C de Klerk; Arnold J J Reuser; Ans T Van Der Ploeg
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
Pediatrics 2003;112(2):332-40.
2003: Nicole I Wolf; Angelika Seitz; Inga Harting; Jan A M Smeitink; F Trijbels; Lambert P van den Heuvel; H Schlemmer; Friedrich Ebinger; W Evert; Dietz Rating
New pattern of brain MRI lesions in isolated complex I deficiency.
Neuropediatrics 2003;34(3):156-9.
2003: PE Jira; Hans R Waterham; R J A Wanders; Jan A M Smeitink; Rob C A Sengers; Ron A Wevers
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Annals of human genetics 2003;67(Pt 3):269-80.
2003: F H van der Westhuizen; Lambert P van den Heuvel; Roel Smeets; Joris Veltman; Rolph Pfundt; Ad Geurts van Kessel; B M Ursing; Jan A M Smeitink
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.
Neuropediatrics 2003;34(1):14-22.
2003: S M S Budde; Lambert P van den Heuvel; Roel Smeets; Daniela Skladal; J A Mayr; Carolien A Boelen; V Petruzzella; Sergio Papa; Jan A M Smeitink
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
Journal of inherited metabolic disease 2003;26(8):813-5.
2003: Jan A M Smeitink
Mitochondrial disorders: clinical presentation and diagnostic dilemmas.
Journal of inherited metabolic disease 2003;26(2-3):199-207.
2003: Roel Smeets; Jan A M Smeitink; Ben A Semmekrot; Hans R Scholte; Ronald J A Wanders; Lambert P van den Heuvel
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
Journal of human genetics 2003;48(1):8-13.
2003: Wim Ruitenbeek; Keiko Kobayashi; Mikio Iijima; Jan A M Smeitink; Udo F H Engelke; Ronney A De Abreu; Hanneke T Kwast; Takeyori Saheki; Carolien A Boelen; Jan G N de Jong; Ron A Wevers
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.
Annals of clinical biochemistry 2003;40(Pt 1):102-7.
2003: Lambert P van den Heuvel; Murtada H Farhoud; Ron A Wevers; B G M van Engelen; Jan A M Smeitink
Proteomics and neuromuscular diseases: theoretical concept and first results.
Annals of clinical biochemistry 2003;40(Pt 1):9-15.
2003: Antoon J M Janssen; Jan A M Smeitink; Lambert P van den Heuvel
Some practical aspects of providing a diagnostic service for respiratory chain defects.
Annals of clinical biochemistry 2003;40(Pt 1):3-8.
2002: Nicole I Wolf; Jan A M Smeitink
Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children.
Neurology 2002;59(9):1402-5.
2002: Cristina Ugalde; Marieke Coenen; Murtada H Farhoud; Stefanie Gilinsky; Werner J H Koopman; Lambert P van den Heuvel; Jan A M Smeitink; Leo G J Nijtmans
New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase.
Mitochondrion 2002;2(1-2):117-28.
2002: S M S Budde; Lambert P van den Heuvel; Jan A M Smeitink
The human complex I NDUFS4 subunit: from gene structure to function and pathology.
Mitochondrion 2002;2(1-2):109-15.
2002: Eric Z Jordens; Luigi Palmieri; Marjan Huizing; Lambert P van den Heuvel; Rob C A Sengers; Andrea Dörner; Wim Ruitenbeek; Frans J M Trijbels; Jullius Valsson; Gunnlaugur Sigfusson; Ferdinando Palmieri; Jan A M Smeitink
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.
Annals of neurology 2002;52(1):95-9.
2002: Knut Brockmann; Alf Bjornstad; Peter Dechent; Christoph G Korenke; Jan A M Smeitink; J M Frans Trijbels; Sabine Athanassopoulos; Rafael Villagran; Ola H Skjeldal; Ekkehard Wilichowski; Jens Frahm; Folker Hanefeld
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency.
Annals of neurology 2002;52(1):38-46.
2002: Aniek O de Graaf; Jules P P Meijerink; Lambert P van den Heuvel; Ronney A DeAbreu; Theo de Witte; Joop H Jansen; Jan A M Smeitink
Bcl-2 protects against apoptosis induced by antimycin A and bongkrekic acid without restoring cellular ATP levels.
Biochimica et biophysica acta 2002;1554(1-2):57-65.
2001: Marieke Coenen; Lambert P van den Heuvel; Jan A M Smeitink
Mitochondrial oxidative phosphorylation system assembly in man: recent achievements.
Current opinion in neurology 2001;14(6):777-81.
2001: L E Niers; Jan A M Smeitink; J M F Trijbels; Rob C A Sengers; Antoon J M Janssen; Lambert P van den Heuvel
Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency.
Prenatal diagnosis 2001;21(10):871-80.
2001: E J Okhuijsen-Kroes; J M F Trijbels; Rob C A Sengers; Edwin C M Mariman; Lambert P van den Heuvel; Udo Wendel; G Koch; Jan A M Smeitink
Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
Neuropediatrics 2001;32(4):183-90.
2001: PE Jira; Ronald J A Wanders; Jan A M Smeitink; J de Jong; Ron A Wevers; W Oostheim; Joep H A M Tuerlings; Raoul Hennekam; Rob C A Sengers; Hans R Waterham
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
Annals of human genetics 2001;65(Pt 3):229-36.
2001: David R Thorburn; Jan A M Smeitink
Diagnosis of mitochondrial disorders: clinical and biochemical approach.
Journal of inherited metabolic disease 2001;24(2):312-6.
2001: Johanna M P Van den Hout; Arnold J J Reuser; J B C de Klerk; W F M Arts; Jan A M Smeitink; Ans T Van Der Ploeg
Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.
Journal of inherited metabolic disease 2001;24(2):266-74.
2001: Ralf H Triepels; Bonnie J Hanson; Lambert P van den Heuvel; L Sundell; Michael F Marusich; Jan A M Smeitink; Roderick A Capaldi
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns.
The Journal of biological chemistry 2001;276(12):8892-7.
2001: Ralf H Triepels; Lambert P van den Heuvel; J M F Trijbels; Jan A M Smeitink
Respiratory chain complex I deficiency.
American journal of medical genetics 2001;106(1):37-45.
2000: JF de Rijk-van Andel; Fons J M Gabreëls; B Geurtz; Gerry C H Steenbergen-Spanjers; Lambert P van den Heuvel; Jan A M Smeitink; Ron A Wevers
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.
Neurology 2000;55(12):1926-8.
2000: Jan A M Smeitink; Rob C A Sengers; Frans J M Trijbels; Lambert P van den Heuvel
Nuclear genes and oxidative phosphorylation disorders: a review.
European journal of pediatrics 2000;159 Suppl 3():S227-31.
2000: S M S Budde; Lambert P van den Heuvel; Antoon J M Janssen; Roel Smeets; CA Buskens; L DeMeirleir; Rudy Van Coster; M Baethmann; Thomas Voit; J M F Trijbels; Jan A M Smeitink
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.
Biochemical and biophysical research communications 2000;275(1):63-8.
2000: PE Jira; Ron A Wevers; J de Jong; E Rubio-Gozalbo; F S Janssen-Zijlstra; A F van Heyst; Rob C A Sengers; Jan A M Smeitink
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.
Journal of lipid research 2000;41(8):1339-46.
2000: M Estela Rubio-Gozalbo; Rob C A Sengers; J M F Trijbels; W H Doesburg; Antoon J M Janssen; André L M Verbeek; Jan A M Smeitink
A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathy.
Neuropediatrics 2000;31(3):114-21.
2000: Angelo Messina; Francesca Guarino; Marta Oliva; L P van den Heuvel; Jan A M Smeitink; Vito De Pinto
Characterization of the human porin isoform 1 (HVDAC1) gene by amplification on the whole human genome: A tool for porin deficiency analysis.
Biochemical and biophysical research communications 2000;270(3):787-92.
2000: Aad Verrips; M A Willemsen; E Rubio-Gozalbo; J de Jong; Jan A M Smeitink
Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy.
Annals of neurology 2000;47(4):552-3.
2000: Carlo Dionisi Vici; Georg F Hoffmann; Vincenzo Leuzzi; H Hoffken; Christa Bräutigam; C Rizzo; G C Steebergen-Spanjers; Jan A M Smeitink; Ron A Wevers
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.
The Journal of pediatrics 2000;136(4):560-2.
2000: M Estela Rubio-Gozalbo; K P Dijkman; Lambert P van den Heuvel; Rob C A Sengers; Udo Wendel; Jan A M Smeitink
Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
Human mutation 2000;15(6):522-32.
2000: J L C M Loeffen; Jan A M Smeitink; J M F Trijbels; Antoon J M Janssen; Ralf H Triepels; Rob C A Sengers; Lambert P van den Heuvel
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Human mutation 2000;15(2):123-34.
1999: Christa Bräutigam; Gerry C H Steenbergen-Spanjers; Georg F Hoffmann; Carlo Dionisi Vici; Lambert P van den Heuvel; Jan A M Smeitink; Ron A Wevers
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
Clinical chemistry 1999;45(12):2073-8.
1999: Marieke Coenen; Lambert P van den Heuvel; Leo G J Nijtmans; Eva Morava; I Marquardt; Hermann J Girschick; Frans J M Trijbels; Les Grivell; Jan A M Smeitink
SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.
Biochemical and biophysical research communications 1999;265(2):339-44.
1999: Kees Brinkman; Jan A M Smeitink; J A Romijn; P Reiss
Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophy.
Lancet 1999;354(9184):1112-5.
1999: S Grünewald; K Huyben; J G de Jong; Jan A M Smeitink; E Rubio; G H Boers; H S Conradt; U Wendel; Ron A Wevers
beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.
Biochimica et biophysica acta 1999;1455(1):54-60.
1999: M Estela Rubio-Gozalbo; A Heerschap; J M F Trijbels; L De Meirleir; H O Thijssen; Jan A M Smeitink
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.
Magnetic resonance imaging 1999;17(6):939-44.
1999: Ron A Wevers; JF de Rijk-van Andel; Christa Bräutigam; B Geurtz; Lambert P van den Heuvel; Gerry C H Steenbergen-Spanjers; Jan A M Smeitink; Georg F Hoffmann; Fons J M Gabreëls
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
Journal of inherited metabolic disease 1999;22(4):364-73.
1999: Ralf H Triepels; Lambert P van den Heuvel; J L C M Loeffen; CA Buskens; Roel Smeets; M Estela Rubio-Gozalbo; S M S Budde; Edwin C M Mariman; F A Wijburg; P G Barth; J M F Trijbels; Jan A M Smeitink
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Annals of neurology 1999;45(6):787-90.
1999: Ingrid M Van Beynum; Jan A M Smeitink; Martin den Heijer; M T te Poele Pothoff; Henk J Blom
Hyperhomocysteinemia: a risk factor for ischemic stroke in children.
Circulation 1999;99(16):2070-2.
1999: M Estela Rubio-Gozalbo; Jan A M Smeitink; Wim Ruitenbeek; Henk ter Laak; Reinier A Mullaart; M Schuelke; E C Mariman; Rob C A Sengers; Fons J M Gabreëls
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency.
Neurology 1999;52(2):383-6.
1999: André B P van Kuilenburg; Peter Vreken; N G G M Abeling; Henk D Bakker; Rutger Meinsma; Henk Van Lenthe; Ronney A De Abreu; Jan A M Smeitink; Hulya Kayserili; Memnune Y Apak; E Christensen; Irma E Holopainen; Kari Pulkki; D Riva; G Botteon; Elisabeth Holme; Már Tulinius; Wim J Kleijer; Frits A Beemer; Marinus Duran; Klary E Niezen-Koning; G Peter A Smit; Cornelis Jakobs; L M Smit; Albert H van Gennip
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Human genetics 1999;104(1):1-9.
1999: Marjo S van der Knaap; C Jakobs; G F Hoffmann; William Nyhan; W O Renier; Jan A M Smeitink; Coriene E Catsman-Berrevoets; O Hjalmarson; H Vallance; K Sugita; C M Bowe; J T Herrin; W J Craigen; N R Buist; D S Brookfield; R A Chalmers
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?
Annals of neurology 1999;45(1):111-9.
1998: J L C M Loeffen; Ralf H Triepels; Lambert P van den Heuvel; M Schuelke; CA Buskens; Roel Smeets; J M F Trijbels; Jan A M Smeitink
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
Biochemical and biophysical research communications 1998;253(2):415-22.
1998: Kees Brinkman; Hadewych J M ter Hofstede; David Burger; Jan A M Smeitink; Peter P Koopmans
Adverse effects of reverse transcriptase inhibitors: mitochondrial toxicity as common pathway.
AIDS (London, England) 1998;12(14):1735-44.
1998: Christa Bräutigam; Ron A Wevers; R J Jansen; Jan A M Smeitink; JF de Rijk-van Andel; F J Gabreëls; Georg F Hoffmann
Biochemical hallmarks of tyrosine hydroxylase deficiency.
Clinical chemistry 1998;44(9):1897-904.
1998: Hans R Waterham; Frits A Wijburg; Raoul Hennekam; Peter Vreken; Bwee Tien Poll-The; Lambertus Dorland; Marinus Duran; P E Jira; Jan A M Smeitink; Ron A Wevers; Ronald J A Wanders
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
American journal of human genetics 1998;63(2):329-38.
1998: M A Willemsen; P E Jira; Fons J M Gabreëls; A T van der Ploeg; Jan A M Smeitink
[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].
Nederlands tijdschrift voor geneeskunde 1998;142(24):1388-92.
1998: Marjan Huizing; Wim Ruitenbeek; Lambert P van den Heuvel; V Dolce; Vito Iacobazzi; Jan A M Smeitink; Ferdinando Palmieri; J M F Trijbels
Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.
Journal of bioenergetics and biomembranes 1998;30(3):277-84.
1998: Lambert P van den Heuvel; B Luiten; Jan A M Smeitink; JF de Rijk-van Andel; K Hyland; Gerry C H Steenbergen-Spanjers; Rolf J R J Janssen; Ron A Wevers
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
Human genetics 1998;102(6):644-6.
1998: Marjan Huizing; Udo Wendel; Wim Ruitenbeek; Vito Iacobazzi; Lodewijk IJlst; P Veenhuizen; P Savelkoul; Lambert P van den Heuvel; Jan A M Smeitink; R J Wanders; J M F Trijbels; Ferdinando Palmieri
Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.
Journal of inherited metabolic disease 1998;21(3):262-7.
1998: N M J van der Put; Fons J M Gabreëls; E M Stevens; Jan A M Smeitink; Frans J M Trijbels; Tom K A B Eskes; Lambert P van den Heuvel; Henk J Blom
A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
American journal of human genetics 1998;62(5):1044-51.
1998: M Estela Rubio-Gozalbo; Wim Ruitenbeek; Udo Wendel; Rob C A Sengers; J M F Trijbels; Jan A M Smeitink
Systemic infantile complex I deficiency with fatal outcome in two brothers.
Neuropediatrics 1998;29(1):43-5.
1998: Jan A M Smeitink; J L C M Loeffen; Ralf H Triepels; Roel Smeets; J M F Trijbels; Lambert P van den Heuvel
Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art.
Human molecular genetics 1998;7(10):1573-9.
1998: Monique M P Hermans; Marian A Kroos; Jan A M Smeitink; Ans T Van Der Ploeg; Wim J Kleijer; Arnold J J Reuser
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
Human mutation 1998;11(3):209-15.
1998: Cesar Casale; Núria Casals; Juan Pié; Nuria Zapater; Celia Pérez-Cerdá; Begoña Merinero; Mercedes Martínez-Pardo; J J García-Peñas; J M García-Gonzalez; R Lama; B T Poll-The; Jan A M Smeitink; Ronald J A Wanders; Magdalena Ugarte; Fausto G Hegardt
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.
Archives of biochemistry and biophysics 1998;349(1):129-37.
1997: M Estela Rubio-Gozalbo; Wim Ruitenbeek; HA Bentlage; Hermann Schägger; Rob C A Sengers; J M F Trijbels; Henk ter Laak; Edwin C M Mariman; M M Bakker; J de Jager; Jan A M Smeitink
Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV.
European journal of pediatrics 1997;156(12):931-4.
1997: Frans J M Trijbels; Wim Ruitenbeek; Marjan Huizing; Udo Wendel; Jan A M Smeitink; Rob C A Sengers
Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex.
Molecular and cellular biochemistry 1997;174(1-2):243-7.
1997: N M J van der Put; Chris M G Thomas; Tom K A B Eskes; Frans J M Trijbels; Régine P M Steegers-Theunissen; Edwin C M Mariman; A De Graaf-Hess; Jan A M Smeitink; Henk J Blom
Altered folate and vitamin B12 metabolism in families with spina bifida offspring.
QJM : monthly journal of the Association of Physicians 1997;90(8):505-10.
1997: T M Mulders; D J Bergman; B T Poll-The; G P Smit; Douwe D Breimer; G J Mulder; M Duran; Jan A M Smeitink
Abnormal glutathione conjugation in patients with tyrosinaemia type I.
Journal of inherited metabolic disease 1997;20(4):473-85.
1997: J Mourmans; Udo Wendel; HA Bentlage; J M F Trijbels; Jan A M Smeitink; I F M de Coo; Fons J M Gabreëls; Rob C A Sengers; Wim Ruitenbeek
Clinical heterogeneity in respiratory chain complex III deficiency in childhood.
Journal of the neurological sciences 1997;149(1):111-7.
1997: PE Jira; Ron A Wevers; J de Jong; E Rubio-Gozalbo; Jan A M Smeitink
New treatment strategy for Smith-Lemli-Opitz syndrome.
Lancet 1997;349(9060):1222.
1997: I Schrijver-Wieling; G H van Rens; D Wittebol-Post; Jan A M Smeitink; J P de Jager; H B de Klerk; G H van Lith
Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency.
The British journal of ophthalmology 1997;81(4):291-4.
1997: Margreet G E M Ausems; E Bakker; R Berger; M Duran; Otto P van Diggelen; J L M Keulemans; H W de Valk; A L Kneppers; Lambertus Dorland; P F Eskes; Frits A Beemer; Bwee Tien Poll-The; Jan A M Smeitink
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
American journal of medical genetics 1997;68(2):236-9.
1996: Otto P van Diggelen; Jacek Zaremba; W He; J L M Keulemans; A M Boer; Arnold J J Reuser; Margreet G E M Ausems; Jan A M Smeitink; J Kowalczyk; Ewa Pronicka; D Rokicki; E Tarnowska-Dziduszko; A L Kneppers; E Bakker
Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.
Clinical genetics 1996;50(5):310-6.
1996: Carlos Buesa; Juan Pié; A Barceló; Núria Casals; Cristina Mascaró; Cesar Casale; Diego Haro; M Duran; Jan A M Smeitink; Fausto G Hegardt
Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency.
Journal of lipid research 1996;37(11):2420-32.
1996: A J Bergman; Marjo S van der Knaap; Jan A M Smeitink; Marinus Duran; L Dorland; J Valk; Bwee Tien Poll-The
Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations.
Pediatric research 1996;40(3):404-9.
1996: Nenad Blau; J B de Klerk; Beat Thöny; Claus W Heizmann; Lucja Kierat; Jan A M Smeitink; M Duran
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies.
Biochemical and molecular medicine 1996;58(2):199-203.
1996: C J van der Sijs-Bos; C M Diepstraten; J A Juyn; M Plaisier; Jacques C Giltay; Francjan J van Spronsen; G Peter A Smit; Ruud Berger; Jan A M Smeitink; Bwee Tien Poll-The; JK Ploos van Amstel
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
Human heredity 1996;46(4):185-90.
1996: Margreet G E M Ausems; Marian A Kroos; M Van der Kraan; Jan A M Smeitink; Wim J Kleijer; H K Ploos van Amstel; Arnold J J Reuser
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.
Clinical genetics 1996;49(6):325-8.
1996: H W de Valk; M K van Eeden; J D Banga; René van der Griend; E de Groot; F J Haas; O J Meuwissen; M Duran; Jan A M Smeitink; B T Poll-The; J B de Klerk; D Wittebol-Post; M O Rolland
Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency.
Stroke; a journal of cerebral circulation 1996;27(6):1134-6.
1996: A M Motley; Henk F Tabak; Jan A M Smeitink; B T Poll-The; P G Barth; R J Wanders
Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.
Biochimica et biophysica acta 1996;1315(3):153-8.
1995: Y C de Hingh; J Meyer; J C Fischer; R Berger; Jan A M Smeitink; J A Op den Kamp
Direct measurement of lipid peroxidation in submitochondrial particles.
Biochemistry 1995;34(39):12755-60.
1995: Marc Espeel; Frank Roels; M Giros; H Mandel; A Peltier; F Poggi; Bwee Tien Poll-The; Jan A M Smeitink; L Van Maldergem; M J Santos
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.
European journal of cell biology 1995;67(4):319-27.
1995: Marc Espeel; H Mandel; F Poggi; Jan A M Smeitink; R J Wanders; Ingrid Kerckaert; R B Schutgens; J M Saudubray; Bwee Tien Poll-The; Frank Roels
Peroxisome mosaicism in the livers of peroxisomal deficiency patients.
Hepatology (Baltimore, Md.) 1995;22(2):497-504.
1995: Inge E T van den Berg; Ellen A C M van Beurden; Helga E M Malingré; H K van Amstel; Bwee Tien Poll-The; Jan A M Smeitink; W H Lamers; Ruud Berger
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.
American journal of human genetics 1995;56(2):381-7.
1994: A J Bergman; R A Donckerwolcke; Marinus Duran; Jan A M Smeitink; B Mousson; Christine Vianey-Saban; Bwee Tien Poll-The
Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency.
Pediatric research 1994;36(5):582-8.
1994: Jan Hendrickx; P Coucke; M C Hors-Cayla; G Peter A Smit; Y S Shin; J Deutsch; Jan A M Smeitink; R Berger; P Lee; J Fernandes
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).
Genomics 1994;21(3):620-5.
1994: R P Beekman; N Hofstee; Jan A M Smeitink; B T Poll-The; M Duran
Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.
European journal of pediatrics 1994;153(4):264-6.
1994: Jan A M Smeitink; Wim Ruitenbeek; Rob C A Sengers; R Wevers; T van Lith; Frans J M Trijbels
Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria.
Journal of inherited metabolic disease 1994;17(1):67-73.
1994: B Fournier; Jan A M Smeitink; L Dorland; R Berger; J M Saudubray; B T Poll-The
Peroxisomal disorders: a review.
Journal of inherited metabolic disease 1994;17(4):470-86.
1993: Marc Espeel; J C Heikoop; Jan A M Smeitink; F A Beemer; D De Craemer; M Van den Berg; T Hashimoto; R J Wanders; R B Schutgens; Bwee Tien Poll-The
Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata.
Ultrastructural pathology 1993;17(6):623-36.
1993: Jan A M Smeitink; J C Fischer; Wim Ruitenbeek; M Duran; M Hofkamp; H A Bentlage; B T Poll-The
Sudden infant death associated with defective oxidative phosphorylation.
Lancet 1993;341(8860):1601.
1993: L Dorland; B T Poll-The; M Duran; Jan A M Smeitink; R Berger
Phenylpyruvate, fetal damage, and maternal phenylketonuria syndrome.
Lancet 1993;341(8856):1351-2.
1993: G J van Ekeren; A M Stadhouders; Jan A M Smeitink; Rob C A Sengers
A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis.
European journal of pediatrics 1993;152(3):255-9.
1993: Marinus Duran; E Regula Baumgartner; Terttu Suormala; L Bruinvis; L Dorland; Jan A M Smeitink; Bwee Tien Poll-The
Cerebrospinal fluid organic acids in biotinidase deficiency.
Journal of inherited metabolic disease 1993;16(3):513-6.
1992: Wolfgang Sperl; Rob C A Sengers; J M F Trijbels; Wim Ruitenbeek; W H Doesburg; Jan A M Smeitink; L A Kollée; J M Boon
Enzyme activities of the mitochondrial energy generating system in skeletal muscle tissue of preterm and fullterm neonates.
Annals of clinical biochemistry 1992;29 ( Pt 6)():638-45.
1992: M Wyss; Jan A M Smeitink; R A Wevers; Theo Wallimann
Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism.
Biochimica et biophysica acta 1992;1102(2):119-66.
1992: Jan A M Smeitink; Wim Ruitenbeek; T van Lith; Rob C A Sengers; Frans J M Trijbels; R Wevers; Wolfgang Sperl; R de Graaf
Maturation of mitochondrial and other isoenzymes of creatine kinase in skeletal muscle of preterm born infants.
Annals of clinical biochemistry 1992;29 ( Pt 3)():302-6.
1992: Jan A M Smeitink; R Wevers; J Hulshof; Wim Ruitenbeek; T van Lith; Rob C A Sengers; Frans J M Trijbels; C Korenke; Theo Wallimann
A method for quantitative measurement of mitochondrial creatine kinase in human skeletal muscle.
Annals of clinical biochemistry 1992;29 ( Pt 2)():196-201.
1992: Jan A M Smeitink; A Stadhouders; Rob C A Sengers; Wim Ruitenbeek; R Wevers; Henk ter Laak; Frans J M Trijbels
Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia.
Neuromuscular disorders : NMD 1992;2(1):35-40.
1992: Jan A M Smeitink; F A Beemer; Marc Espeel; R A Donckerwolcke; C Jakobs; R J Wanders; R B Schutgens; Frank Roels; Marinus Duran; L Dorland
Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.
Journal of inherited metabolic disease 1992;15(3):377-80.
1989: Jan A M Smeitink; Rob C A Sengers; J M F Trijbels; Wim Ruitenbeek; O Daniëls; A M Stadhouders; M J Kock-Jansen
Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy.
European journal of pediatrics 1989;148(7):656-9.
1989: J Hoekx; Jan A M Smeitink; H Brunner; L Monnens
[The De Barsy syndrome].
Tijdschrift voor kindergeneeskunde 1989;57(2):53-7.
1989: J M van Proosdij; Jan A M Smeitink
[Sarcoidosis].
Tijdschrift voor kindergeneeskunde 1989;57(2):49-53.
1988: Jan A M Smeitink; M Verreussel; C Schröder; R Lippens
Nephrotoxicity associated with ifosfamide.
European journal of pediatrics 1988;148(2):164-6.
1987: Jan A M Smeitink; B C Hamel; R van Empelen; J D de Vries; L A Monnens
[Prune-belly syndrome: experiences with 9 patients].
Nederlands tijdschrift voor geneeskunde 1987;131(12):489-93.