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Rob Sengers

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A A E M van Alfen-van der Velden; Vivian P J Claessen; Jeroen Hopman; John Klaessens; Rob C A Sengers; Kian Liem
Changes in cerebral oxygenation and hemodynamics during cranial ultrasound in preterm infants.
Gerben Truin; Mailys Guillard; Dirk J Lefeber; Jolanta Sykut-Cegielska; Maciej Adamowicz; Esther Hoppenreijs; Rob C A Sengers; Ron A Wevers; Eva Morava
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.
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.

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2009: A A E M van Alfen-van der Velden; Vivian P J Claessen; Jeroen Hopman; John Klaessens; Rob C A Sengers; Kian Liem
Changes in cerebral oxygenation and hemodynamics during cranial ultrasound in preterm infants.
Brain & development 2009;31(6):427-34.
2008: Gerben Truin; Mailys Guillard; Dirk J Lefeber; Jolanta Sykut-Cegielska; Maciej Adamowicz; Esther Hoppenreijs; Rob C A Sengers; Ron A Wevers; Eva Morava
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.
Molecular genetics and metabolism 2008;94(4):481-4.
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.
2007: A A E M van Alfen-van der Velden; Jeroen Hopman; John Klaessens; Ton Feuth; Rob C A Sengers; Kian Liem
Cerebral hemodynamics and oxygenation after serial CSF drainage in infants with PHVD.
Brain & development 2007;29(10):623-9.
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.
2006: Willeke A van den Beld; Gitty A C van der Sanden; Rob C A Sengers; André L M Verbeek; Fons J M Gabreëls
Validity and reproducibility of the Jamar dynamometer in children aged 4-11 years.
Disability and rehabilitation 2006;28(21):1303-9.
2006: Willeke A van den Beld; Gitty A C van der Sanden; Ton Feuth; Antoon J M Janssen; Rob C A Sengers; André L M Verbeek; Fons J M Gabreëls
A new motor performance test in a prospective study on children with suspected myopathy.
Developmental medicine and child neurology 2006;48(9):739-43.
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: A A E M van Alfen-van der Velden; Jeroen Hopman; John Klaessens; Ton Feuth; Rob C A Sengers; Kian Liem
Effects of midazolam and morphine on cerebral oxygenation and hemodynamics in ventilated premature infants.
Biology of the neonate 2006;90(3):197-202.
2006: A A E M van Alfen-van der Velden; Jeroen Hopman; John Klaessens; Ton Feuth; Rob C A Sengers; Kian Liem
Effects of rapid versus slow infusion of sodium bicarbonate on cerebral hemodynamics and oxygenation in preterm infants.
Biology of the neonate 2006;90(2):122-7.
2006: Willeke A van den Beld; Gitty A C van der Sanden; Rob C A Sengers; André L M Verbeek; Fons J M Gabreëls
Validity and reproducibility of hand-held dynamometry in children aged 4-11 years.
Journal of rehabilitation medicine : official journal of the UEMS European Board of Physical and Rehabilitation Medicine 2006;38(1):57-64.
2006: Willeke A van den Beld; Gitty A C van der Sanden; Rob C A Sengers; André L M Verbeek; Fons J M Gabreëls
Validity and reproducibility of a new diagnostic motor performance test in children with suspected myopathy.
Developmental medicine and child neurology 2006;48(1):20-7.
2004: Eva Morava; Rob C A Sengers; Henk ter Laak; Lambert van Den Heuvel; Antoon Janssen; Frans J M Trijbels; Hans Cruysberg; Carolien A Boelen; jan smeitink
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.
European journal of pediatrics 2004;163(8):467-71.
2004: Arno F van Heijst; Kian Liem; Jeroen Hopman; Frans van der Staak; Rob C A Sengers
Oxygenation and hemodynamics in left and right cerebral hemispheres during induction of veno-arterial extracorporeal membrane oxygenation.
The Journal of pediatrics 2004;144(2):223-8.
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: Els M R De Leenheer; Grétel G Oudesluijs; Anne Marie Kuijpers-Jagtman; Gudrun A Rappold; Rob C A Sengers; Cor W R J Cremers
Congenital conductive hearing loss in dyschondrosteosis.
The Annals of otology, rhinology, and laryngology 2003;112(2):153-8.
2003: L Niers; Lambert van Den Heuvel; Frans J M Trijbels; Rob C A Sengers; jan smeitink
Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.
Journal of inherited metabolic disease 2003;26(7):647-58.
2003: Arno F van Heijst; Frans van der Staak; Jeroen Hopman; Ronald B Tanke; Rob C A Sengers; Kian Liem
Ductus arteriosus with left-to-right shunt during venoarterial extracorporeal membrane oxygenation: effects on cerebral oxygenation and hemodynamics.
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2003;4(1):94-9.
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.
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: C Noordam; Ineke van der Burgt; Rob C A Sengers; Henriette A Delemarre-Van De Waal; Barto J Otten
Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial.
Acta paediatrica (Oslo, Norway : 1992) 2001;90(8):889-94.
2001: E den Broeder; B Oeseburg; RJ Lippens; WA van Staveren; Rob C A Sengers; MA van't Hof; J J M Tolboom
Basal metabolic rate in children with a solid tumour.
European journal of clinical nutrition 2001;55(8):673-81.
2001: jan smeitink; Rob C A Sengers; Frans J M Trijbels; Lambert van Den Heuvel
Human NADH:ubiquinone oxidoreductase.
Journal of bioenergetics and biomembranes 2001;33(3):259-66.
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: J L C M Loeffen; Orly Elpeleg; jan smeitink; Roel Smeets; Sylvia Stöckler-Ipsiroglu; H Mandel; Rob C A Sengers; Frans J M Trijbels; Lambert van Den Heuvel
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
Annals of neurology 2001;49(2):195-201.
2001: C Noordam; Ineke van der Burgt; C G J Sweep; Henriette A Delemarre-Van De Waal; Rob C A Sengers; Barto J Otten
Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment.
Clinical endocrinology 2001;54(1):53-9.
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: E den Broeder; RJ Lippens; M A van 't Hof; J J M Tolboom; Rob C A Sengers; A M van den Berg; N B van Houdt; Zandrie Hofman; WA van Staveren
Nasogastric tube feeding in children with cancer: the effect of two different formulas on weight, body composition, and serum protein concentrations.
JPEN. Journal of parenteral and enteral nutrition 2000;24(6):351-60.
2000: E den Broeder; RJ Lippens; MA van't Hof; J J M Tolboom; Rob C A Sengers; WA van Staveren
Association between the change in nutritional status in response to tube feeding and the occurrence of infections in children with a solid tumor.
Pediatric hematology and oncology 2000;17(7):567-75.
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: 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: Michèl A A P Willemsen; Jan J Rotteveel; Peter H M F Van Domburg; Fons J M Gabreëls; Ertan Mayatepek; Rob C A Sengers
Preterm birth in Sjögren-Larsson syndrome.
Neuropediatrics 1999;30(6):325-7.
1999: J L C M Loeffen; Roel Smeets; jan smeitink; Ralf H Triepels; Rob C A Sengers; Frans J M Trijbels; Lambert van Den Heuvel
The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.
Journal of inherited metabolic disease 1999;22(1):19-28.
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.
1998: J L C M Loeffen; jan smeitink; Ralf H Triepels; Roel Smeets; Markus Schuelke; Rob C A Sengers; Frans J M Trijbels; Ben Hamel; Reinier A Mullaart; Lambert van Den Heuvel
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
American journal of human genetics 1998;63(6):1598-608.
1998: E den Broeder; RJ Lippens; MA van't Hof; J J M Tolboom; WA van Staveren; Zandrie Hofman; Rob C A Sengers
Effects of naso-gastric tube feeding on the nutritional status of children with cancer.
European journal of clinical nutrition 1998;52(7):494-500.
1998: J L C M Loeffen; Lambert van Den Heuvel; Roel Smeets; Ralf H Triepels; Rob C A Sengers; Frans J M Trijbels; jan smeitink
cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed.
Biochemical and biophysical research communications 1998;247(3):751-8.
1998: J L C M Loeffen; Roel Smeets; jan smeitink; Wim Ruitenbeek; Antoon Janssen; Edwin C M Mariman; Rob C A Sengers; Frans J M Trijbels; Lambert van Den Heuvel
The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.
Journal of inherited metabolic disease 1998;21(3):210-5.
1998: Henk ter Laak; Q H Leyten; Fons J M Gabreëls; H Kuppen; W O Renier; Rob C A Sengers
Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: an immunohistochemical study.
Clinical neurology and neurosurgery 1998;100(1):5-10.
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: Frans J M Trijbels; Marjan Huizing; Wim Ruitenbeek; Rob C A Sengers; jan smeitink; Vito De Pinto; Udo Wendel
Disturbances in mitochondrial transport systems leading to encephalomyopathies.
BioFactors (Oxford, England) 1998;7(3):225-7.
1998: B A Semmekrot; P Wesseling; J F Bruinenberg; F M Gabreëls; Henk ter Laak; Rob C A Sengers
Infantile motor neuron disease with autonomic dysfunction and bunina bodies.
Acta neuropathologica 1998;95(1):104-6.
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: M A Willemsen; A M van Oort; Henk ter Laak; Rob C A Sengers; Fons J M Gabreëls
Multicore myopathy with restrictive cardiomyopathy.
Acta paediatrica (Oslo, Norway : 1992) 1997;86(11):1271-4.
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: 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.
1996: Willem-Pieter de Boode; Ben A Semmekrot; Henk ter Laak; C J van der Burgt; J M Draaisma; E J Lommen; Rob C A Sengers; J M van Wijk-Hoek
Myopathology in patients with a Noonan phenotype.
Acta neuropathologica 1996;92(6):597-602.
1996: J M F Trijbels; Wim Ruitenbeek; Rob C A Sengers; A J Janssen; BA van Oost
Benign mitochondrial encephalomyopathy in a patient with complex I deficiency.
Journal of inherited metabolic disease 1996;19(2):149-52.
1995: Udo Wendel; Wim Ruitenbeek; H A Bentlage; Rob C A Sengers; J M F Trijbels
Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain.
European journal of pediatrics 1995;154(11):915-8.
1995: Peter F.M. van der Ven; PH Jap; P G Barth; Rob C A Sengers; Frans C S Ramaekers; A M Stadhouders
Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro.
Neuromuscular disorders : NMD 1995;5(4):267-75.
1995: Peter F.M. van der Ven; PH Jap; Henk ter Laak; I Nonaka; P G Barth; Rob C A Sengers; A M Stadhouders; Frans C S Ramaekers
Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins.
Journal of the neurological sciences 1995;129(2):199-213.
1995: H A Bentlage; A J Janssen; A Chomyn; Giuseppe Attardi; John E Walker; Hermann Schägger; Rob C A Sengers; F J Trijbels
Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies.
Biochimica et biophysica acta 1995;1234(1):63-73.
1995: H Bentlage; R de Coo; Henk ter Laak; Rob C A Sengers; Frans J M Trijbels; Wim Ruitenbeek; W Schlote; Kathy Pfeiffer; S Gencic; G von Jagow
Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies.
European journal of biochemistry / FEBS 1995;227(3):909-15.
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.
1993: David E Iles; B Segers; Rob C A Sengers; Koenraad G Monsieurs; Luc Heytens; P Jane Halsall; Philip M Hopkins; Francis Richard Ellis; J L Hall-Curran; A D Stewart
Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility.
Human molecular genetics 1993;2(7):863-8.
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: J M F Trijbels; H R Scholte; Wim Ruitenbeek; Rob C A Sengers; A J Janssen; H F Busch
Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies.
European journal of pediatrics 1993;152(3):178-84.
1993: Wolfgang Sperl; J M F Trijbels; Wim Ruitenbeek; H L van Laack; A J Janssen; C M Kerkhof; Rob C A Sengers
Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay.
Enzyme & protein 1993;47(1):37-46.
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: David E Iles; B Segers; Luc Heytens; Rob C A Sengers; Bé Wieringa
High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families.
Genomics 1992;14(3):749-54.
1992: Peter F.M. van der Ven; G Schaart; PH Jap; Rob C A Sengers; A M Stadhouders; Frans C S Ramaekers
Differentiation of human skeletal muscle cells in culture: maturation as indicated by titin and desmin striation.
Cell and tissue research 1992;270(1):189-98.
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: Wolfgang Sperl; Wim Ruitenbeek; Rob C A Sengers; J M F Trijbels; H Bentlage; James Wraith; C Heilmann; S Stöckler; C Binder; Georg Christoph Korenke
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies.
European journal of pediatrics 1992;151(3):192-5.
1992: G J van Ekeren; Rob C A Sengers; A M Stadhouders
Changes in volume densities and distribution of mitochondria in rat skeletal muscle after chronic hypoxia.
International journal of experimental pathology 1992;73(1):51-60.
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: Henk J Blom; D P Engelen; Godfried H J Boers; A M Stadhouders; Rob C A Sengers; Ronney A De Abreu; M T TePoele-Pothoff; J M F Trijbels
Lipid peroxidation in homocysteinaemia.
Journal of inherited metabolic disease 1992;15(3):419-22.
1992: Wim Ruitenbeek; Rob C A Sengers; J M F Trijbels; A J Janssen; Jan Bakkeren
The use of chorionic villi in prenatal diagnosis of mitochondriopathies.
Journal of inherited metabolic disease 1992;15(3):303-6.
1992: Wolfgang Sperl; Rob C A Sengers; J M F Trijbels; Wim Ruitenbeek; R De Graaf; Henk ter Laak; T Van Lith; C Kerkhoff; A Janssen
Postnatal development of pyruvate oxidation in quadriceps muscle of the rat.
Biology of the neonate 1992;61(3):188-200.
1992: R J Wanders; Frits A Wijburg; Jos P N Ruiter; J M F Trijbels; Wim Ruitenbeek; Rob C A Sengers; Jan Bakkeren; N Feller
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose.
Journal of inherited metabolic disease 1992;15(1):84-91.
1991: P J Poels; E M Joosten; Rob C A Sengers; A M Stadhouders; J H Veerkamp; AA Benders
In vitro contraction test for malignant hyperthermia in patients with unexplained recurrent rhabdomyolysis.
Journal of the neurological sciences 1991;105(1):67-72.
1991: G J van Ekeren; E A Cornelissen; A M Stadhouders; Rob C A Sengers
Increased volume density of peripheral mitochondria in skeletal muscle of children with exercise intolerance.
European journal of pediatrics 1991;150(10):744-50.
1991: Peter F.M. van der Ven; PH Jap; R H Wetzels; Henk ter Laak; Frans C S Ramaekers; A M Stadhouders; Rob C A Sengers
Postnatal centralization of muscle fibre nuclei in centronuclear myopathy.
Neuromuscular disorders : NMD 1991;1(3):211-20.
1990: Georg Christoph Korenke; H A Bentlage; Wim Ruitenbeek; Rob C A Sengers; Wolfgang Sperl; J M F Trijbels; F J Gabreels; F A Wijburg; V Wiedermann; Folker Hanefeld
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies.
European journal of pediatrics 1990;150(2):104-8.
1990: Wolfgang Sperl; Wim Ruitenbeek; C M Kerkhof; Rob C A Sengers; J M F Trijbels; J P Guggenbichler; A J Janssen; Jan Bakkeren
Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.
European journal of pediatrics 1990;149(7):487-92.
1990: Wolfgang Sperl; Wim Ruitenbeek; J M F Trijbels; Georg Christoph Korenke; Rob C A Sengers
Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies.
Journal of inherited metabolic disease 1990;13(3):359-62.
1990: Frits A Wijburg; N Feller; Wim Ruitenbeek; J M F Trijbels; Rob C A Sengers; Hans R Scholte; H Przyrembel; R J Wanders
Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts.
Journal of inherited metabolic disease 1990;13(3):355-8.
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: Wim Ruitenbeek; J M F Trijbels; J C Fischer; Rob C A Sengers; A J Janssen; C M Kerkhof
Mitochondrial myopathies: multiple enzyme defects in the respiratory chain.
Journal of inherited metabolic disease 1989;12 Suppl 2():352-4.
1988: J M F Trijbels; Rob C A Sengers; Wim Ruitenbeek; J C Fischer; Jan Bakkeren; A J Janssen
Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach.
European journal of pediatrics 1988;148(2):92-7.
1988: Wolfgang Sperl; Wim Ruitenbeek; J M F Trijbels; Rob C A Sengers; A M Stadhouders; J P Guggenbichler
Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity.
European journal of pediatrics 1988;147(4):418-21.
1988: H L van Laack; Wim Ruitenbeek; J M F Trijbels; Rob C A Sengers; Fons J M Gabreëls; A J Janssen; C M Kerkhof
Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.
Clinica chimica acta; international journal of clinical chemistry 1988;171(1):109-18.
1987: G J van Ekeren; A M Stadhouders; G J Egberink; Rob C A Sengers; O Daniëls; K Kubat
Hereditary mitochondrial hypertrophic cardiomyopathy with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis.
Virchows Archiv. A, Pathological anatomy and histopathology 1987;412(1):47-52.
1987: A M Stadhouders; Rob C A Sengers
Morphological observations in skeletal muscle from patients with a mitochondrial myopathy.
Journal of inherited metabolic disease 1987;10 Suppl 1():62-80.
1987: Rob C A Sengers; A M Stadhouders
Secondary mitochondrial pathology.
Journal of inherited metabolic disease 1987;10 Suppl 1():98-104.
1986: H L van Laack; A J Janssen; Wim Ruitenbeek; J M F Trijbels; Rob C A Sengers; Fons J M Gabreëls
Measurement of radioactivity of pyruvate and other 2-oxo-acids labelled at the 1-position.
Clinica chimica acta; international journal of clinical chemistry 1986;156(1):115-8.
1986: J C Fischer; Wim Ruitenbeek; J M F Trijbels; J H Veerkamp; A M Stadhouders; Rob C A Sengers; A J Janssen
Estimation of NADH oxidation in human skeletal muscle mitochondria.
Clinica chimica acta; international journal of clinical chemistry 1986;155(3):263-73.
1986: J C Fischer; Wim Ruitenbeek; Fons J M Gabreëls; A J Janssen; Willy O Renier; Rob C A Sengers; A M Stadhouders; Henk ter Laak; J M F Trijbels; J H Veerkamp
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.
European journal of pediatrics 1986;144(5):441-4.
1986: R A De Abreu; J A Bakkeren; J Braakhekke; F J Gabreels; J M Maas; Rob C A Sengers
Dihydrothymine dehydrogenase deficiency in a family, leading to elevated levels of uracil and thymine.
Advances in experimental medicine and biology 1986;195 Pt A():77-80.
1985: J C Fischer; Wim Ruitenbeek; J A Berden; J M F Trijbels; J H Veerkamp; A M Stadhouders; Rob C A Sengers; A J Janssen
Differential investigation of the capacity of succinate oxidation in human skeletal muscle.
Clinica chimica acta; international journal of clinical chemistry 1985;153(1):23-36.
1985: J C Fischer; Wim Ruitenbeek; A M Stadhouders; J M F Trijbels; Rob C A Sengers; A J Janssen; J H Veerkamp
Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure.
Clinica chimica acta; international journal of clinical chemistry 1985;145(1):89-99.
1985: J C Fischer; Wim Ruitenbeek; A M Stadhouders; J M F Trijbels; Rob C A Sengers; A J Janssen; J H Veerkamp; R J Bindels
Computerized calculation of in vitro generation of ATP and creatine phosphate induced by respiration in human muscle mitochondria.
Computers in biology and medicine 1985;15(5):269-77.
1984: J A Bakkeren; R A De Abreu; Rob C A Sengers; F J Gabreëls; J M Maas; W O Renier
Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency.
Clinica chimica acta; international journal of clinical chemistry 1984;140(3):247-56.
1984: Rob C A Sengers; J M F Trijbels; Jan Bakkeren; Wim Ruitenbeek; J C Fischer; A J Janssen; A M Stadhouders; Henk ter Laak
Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency.
European journal of pediatrics 1984;141(3):178-80.
1983: Rob C A Sengers; J C Fischer; J M F Trijbels; Wim Ruitenbeek; A M Stadhouders; Henk ter Laak; H H Jaspar
A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency.
European journal of pediatrics 1983;140(4):332-7.
1981: Henk ter Laak; H H Jaspar; F J Gabreëls; T J Breuer; Rob C A Sengers; E M Joosten; A M Stadhouders; A A W M Gabreëls-Festen
Congenital fibre type disproportion.
Clinical neurology and neurosurgery 1981;83(2):67-79.
1980: Rob C A Sengers; A M Stadhouders; H H Jaspar; K J Lamers; J M F Trijbels; S L Notermans
Muscle phosphorylase deficiency in childhood.
European journal of pediatrics 1980;134(2):161-5.