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Wim Ruitenbeek

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Miriam Moviat; Anniek M Terpstra; Wim Ruitenbeek; Leo A J Kluijtmans; Peter Pickkers; Johannes G van der Hoeven
Contribution of various metabolites to the "unmeasured" anions in critically ill patients with metabolic acidosis.
Miriam A M Moviat; Peter Pickkers; Wim Ruitenbeek; Johannes G van der Hoeven
The nature of unmeasured anions in critically ill patients.
Sandra Van Os; Wim Ruitenbeek; Jeroen Hopman; Margot van de Bor
Excitatory amino acid release and electrocortical brain activity after hypoxemia in near-term lambs.

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2008: Miriam Moviat; Anniek M Terpstra; Wim Ruitenbeek; Leo A J Kluijtmans; Peter Pickkers; Johannes G van der Hoeven
Contribution of various metabolites to the "unmeasured" anions in critically ill patients with metabolic acidosis.
Critical care medicine 2008;36(3):752-8.
2008: Miriam A M Moviat; Peter Pickkers; Wim Ruitenbeek; Johannes G van der Hoeven
The nature of unmeasured anions in critically ill patients.
Critical care (London, England) 2008;12(2):416.
2006: Sandra Van Os; Wim Ruitenbeek; Jeroen Hopman; Margot van de Bor
Excitatory amino acid release and electrocortical brain activity after hypoxemia in near-term lambs.
Brain & development 2006;28(6):380-8.
2006: Hanneke A C van Helvoort; Yvonne F Heijdra; Leo M A Heunks; Patty L M Meijer; Wim Ruitenbeek; Hub M H Thijs; P N R Dekhuijzen
Supplemental oxygen prevents exercise-induced oxidative stress in muscle-wasted patients with chronic obstructive pulmonary disease.
American journal of respiratory and critical care medicine 2006;173(10):1122-9.
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: Mustafa A Salih; Abdel-Galil M Abdel Gader; Jihad N Zahraa; Molham M Al-Rayess; Ibrahim Alorainy; Hamdy H Hassan; Wim Ruitenbeek; Massimo Zeviani
Stroke due to mitochondrial disorders in Saudi children.
Saudi medical journal 2006;27 Suppl 1():S81-90.
2006: Sandra Van Os; Evelyn van den Tweel; Hans Egberts; Jeroen Hopman; Wim Ruitenbeek; Frank van Bel; Floris Groenendaal; Margot van de Bor
Cerebral cortical tissue damage after hemorrhagic hypotension in near-term born lambs.
Pediatric research 2006;59(2):221-6.
2006: Eva Morava; Marije Hogeveen; Maaike de Vries; Wim Ruitenbeek; Willem-Pieter de Boode; jan smeitink
Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism.
Biology of the neonate 2006;90(3):207-9.
2006: Sandra Van Os; Wim Ruitenbeek; Jeroen Hopman; John Klaessens; Margot van de Bor
Cortical excitatory amino acid release and cell function during hypotension in near-term born lambs.
Biology of the neonate 2006;90(2):128-34.
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.
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: Jean L Johnson; KV Rajagopalan; W O Renier; I Van der Burgt; Wim Ruitenbeek
Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis.
Prenatal diagnosis 2002;22(5):433-6.
1999: Willy Lissens; P Vreken; Peter G Barth; F A Wijburg; Wim Ruitenbeek; Ronald J A Wanders; Sara Seneca; Inge Liebaers; Linda De Meirleir
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
European journal of pediatrics 1999;158(10):853-7.
1999: Tom J de Koning; L S de Vries; F Groenendaal; Wim Ruitenbeek; G H Jansen; Bwee Tien Poll-The; Peter G Barth
Pontocerebellar hypoplasia associated with respiratory-chain defects.
Neuropediatrics 1999;30(2):93-5.
1999: Angelo Messina; Marta Oliva; C Rosato; Marjan Huizing; Wim Ruitenbeek; L P van den Heuvel; Michael Forte; M Rocchi; Vito De Pinto
Mapping of the human Voltage-Dependent Anion Channel isoforms 1 and 2 reconsidered.
Biochemical and biophysical research communications 1999;255(3):707-10.
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: I F M de Coo; W O Renier; Wim Ruitenbeek; Henk ter Laak; M Bakker; Hermann Schägger; BA van Oost; H J M Smeets
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.
Annals of neurology 1999;45(1):130-3.
1998: jan smeitink; J L C M Loeffen; Roel Smeets; Ralf H Triepels; Wim Ruitenbeek; Frans J M Trijbels; Lambert van Den Heuvel
Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I.
Human genetics 1998;103(2):245-50.
1998: K Steeghs; Frank Oerlemans; A de Haan; Arend Heerschap; L Verdoodt; M de Bie; Wim Ruitenbeek; AA Benders; Carolina R Jost; J van Deursen; PC Tullson; Ronald L Terjung; PH Jap; W Jacob; D Pette; Bé Wieringa
Cytoarchitectural and metabolic adaptations in muscles with mitochondrial and cytosolic creatine kinase deficiencies.
Molecular and cellular biochemistry 1998;184(1-2):183-94.
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: 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: 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: Peter G Barth; Ronald J A Wanders; Wim Ruitenbeek; C Roe; Hans R Scholte; H van der Harten; J van Moorsel; Marinus Duran; Koert P Dingemans
Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families.
Neuromuscular disorders : NMD 1998;8(5):296-304.
1998: Ekkehard Wilichowski; Georg Christoph Korenke; Wim Ruitenbeek; Linda De Meirleir; A Hagendorff; Antoon J M Janssen; Willy Lissens; Folker Hanefeld
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.
Journal of the neurological sciences 1998;157(2):206-13.
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: Lambert van Den Heuvel; Wim Ruitenbeek; Roel Smeets; Z Gelman-Kohan; Orly Elpeleg; J L C M Loeffen; Frans J M Trijbels; Edwin C M Mariman; D de Bruijn; jan smeitink
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.
American journal of human genetics 1998;62(2):262-8.
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.
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: Marjan Huizing; Vito Iacobazzi; Lodewijk IJlst; P Savelkoul; Wim Ruitenbeek; Lambert van Den Heuvel; Cesare Indiveri; jan smeitink; Frans J M Trijbels; R Wanders; Ferdinando Palmieri
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.
American journal of human genetics 1997;61(6):1239-45.
1997: Carlo Dionisi Vici; Wim Ruitenbeek; Giuseppe Fariello; HA Bentlage; R J Wanders; Hermann Schägger; Cesare Bosman; C Piantadosi; Gaetano Sabetta; Enrico Bertini
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.
Annals of neurology 1997;42(4):661-5.
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.
1997: K Steeghs; AA Benders; Frank Oerlemans; A de Haan; Arend Heerschap; Wim Ruitenbeek; Carolina R Jost; J van Deursen; B Perryman; D Pette; M Brückwilder; J Koudijs; PH Jap; J Veerkamp; Bé Wieringa
Altered Ca2+ responses in muscles with combined mitochondrial and cytosolic creatine kinase deficiencies.
Cell 1997;89(1):93-103.
1997: K Steeghs; Arend Heerschap; A de Haan; Wim Ruitenbeek; Frank Oerlemans; J van Deursen; B Perryman; D Pette; M Brückwilder; J Koudijs; PH Jap; Bé Wieringa
Use of gene targeting for compromising energy homeostasis in neuro-muscular tissues: the role of sarcomeric mitochondrial creatine kinase.
Journal of neuroscience methods 1997;71(1):29-41.
1996: P H van Domburg; A A W M Gabreëls-Festen; Fons J M Gabreëls; R de Coo; Wim Ruitenbeek; Pieter Wesseling; Henk ter Laak
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.
Brain : a journal of neurology 1996;119 ( Pt 3)():997-1010.
1996: Marjan Huizing; Wim Ruitenbeek; F P Thinnes; Vito De Pinto; Udo Wendel; Frans J M Trijbels; L M Smit; Henk ter Laak; L P van den Heuvel
Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy.
Pediatric research 1996;39(5):760-5.
1996: Marjan Huizing; Vito De Pinto; Wim Ruitenbeek; Frans J M Trijbels; L P van den Heuvel; Udo Wendel
Importance of mitochondrial transmembrane processes in human mitochondriopathies.
Journal of bioenergetics and biomembranes 1996;28(2):109-14.
1996: Hermann Schägger; H Bentlage; Wim Ruitenbeek; Kathy Pfeiffer; S Rotter; C Rother; A Böttcher-Purkl; E Lodemann
Electrophoretic separation of multiprotein complexes from blood platelets and cell lines: technique for the analysis of diseases with defects in oxidative phosphorylation.
Electrophoresis 1996;17(4):709-14.
1996: Wim Ruitenbeek; U Wendel; B C Hamel; J M F Trijbels
Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.
Journal of inherited metabolic disease 1996;19(4):581-7.
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: Wim Ruitenbeek; P J Poels; D M Turnbull; B Garavaglia; R A Chalmers; R W Taylor; Fons J M Gabreëls
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.
Journal of neurology, neurosurgery, and psychiatry 1995;58(2):209-14.
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 M A van Deursen; Wim Ruitenbeek; Arend Heerschap; PH Jap; Henk ter Laak; Bé Wieringa
Creatine kinase (CK) in skeletal muscle energy metabolism: a study of mouse mutants with graded reduction in muscle CK expression.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(19):9091-5.
1994: Marjan Huizing; Wim Ruitenbeek; F P Thinnes; Vito De Pinto
Lack of voltage-dependent anion channel in human mitochondrial myopathies.
Lancet 1994;344(8924):762.
1994: D de Vries; Ilse J de Wijs; Wim Ruitenbeek; J Begeer; P Smit; H Bentlage; BA van Oost
Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation.
Journal of the neurological sciences 1994;124(1):77-82.
1994: Jan M A van Deursen; PH Jap; Arend Heerschap; Henk ter Laak; Wim Ruitenbeek; Bé Wieringa
Effects of the creatine analogue beta-guanidinopropionic acid on skeletal muscles of mice deficient in muscle creatine kinase.
Biochimica et biophysica acta 1994;1185(3):327-35.
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: D D de Vries; B G van Engelen; Fons J M Gabreëls; Wim Ruitenbeek; BA van Oost
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
Annals of neurology 1993;34(3):410-2.
1993: Jan M A van Deursen; Arend Heerschap; Frank Oerlemans; Wim Ruitenbeek; PH Jap; Henk ter Laak; Bé Wieringa
Skeletal muscles of mice deficient in muscle creatine kinase lack burst activity.
Cell 1993;74(4):621-31.
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: 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.
1993: D D de Vries; Wim Ruitenbeek; Ilse J de Wijs; J M Trijbels; BA van Oost
Enzymological versus DNA investigations in mitochondrial (encephalo-) myopathies.
Journal of inherited metabolic disease 1993;16(3):534-6.
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: Frits A Wijburg; P G Barth; Laurence A Bindoff; Mark A Birch-Machin; J F van der Blij; Wim Ruitenbeek; D M Turnbull; R B Schutgens
Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.
Neuropediatrics 1992;23(3):147-52.
1992: A J Van Zuylen; GJ Bosman; Wim Ruitenbeek; P J Van Kalmthout; Willem J De Grip
No evidence for reduced thrombocyte cytochrome oxidase activity in Alzheimer's disease.
Neurology 1992;42(6):1246-7.
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: 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: D D de Vries; C J Buzing; Wim Ruitenbeek; M P van der Wouw; W Sperl; R C Sengers; J M Trijbels; BA van Oost
Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome.
Neuromuscular disorders : NMD 1992;2(3):185-95.
1992: D D de Vries; Wim Ruitenbeek; BA van Oost
Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay.
Journal of inherited metabolic disease 1992;15(3):307-10.
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: J L van Hellenberg Hubar; Fons J M Gabreëls; Wim Ruitenbeek; R C Sengers; Willy O Renier; H O Thijssen; Henk ter Laak
MELAS syndrome. Report of two patients, and comparison with data of 24 patients derived from the literature.
Neuropediatrics 1991;22(1):10-4.
1991: Frits A Wijburg; R J Wanders; E M van Lie Peters; Gijs D Vos; H G Loggers; PA Bolhuis; N H Herzberg; Wim Ruitenbeek; A van Wilsem; R ten Houten
NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain.
Journal of inherited metabolic disease 1991;14(3):297-300.
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.
1989: Frits A Wijburg; P G Barth; Wim Ruitenbeek; R J Wanders; Gijs D Vos; S L Ploos van Amstel; R B Schutgens
Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment.
Journal of inherited metabolic disease 1989;12 Suppl 2():349-51.
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: P M Van Erven; Fons J M Gabreëls; Wim Ruitenbeek; Willy O Renier; Henk ter Laak; A M Stadhouders
A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle.
Journal of neurology, neurosurgery, and psychiatry 1988;51(5):704-8.
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: P M van Erven; Fons J M Gabreëls; Wim Ruitenbeek; Willy O Renier; J C Fischer
Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency.
Archives of neurology 1987;44(7):775-8.
1987: P M van Erven; Fons J M Gabreëls; Wim Ruitenbeek; Willy O Renier; Karel J B Lamers; J L Sloof
Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain.
Journal of neurology 1987;234(4):215-9.
1987: P M Van Erven; Fons J M Gabreëls; R A Wevers; W H Doesburg; Wim Ruitenbeek; Willy O Renier; Karel J B Lamers
Intravenous pyruvate loading test in Leigh syndrome.
Journal of the neurological sciences 1987;77(2-3):217-27.
1987: P M van Erven; J P Cillessen; E M Eekhoff; Fons J M Gabreëls; W H Doesburg; Wim A J G Lemmens; J L Slooff; Willy O Renier; Wim Ruitenbeek
Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature.
Clinical neurology and neurosurgery 1987;89(4):217-30.
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: P M van Erven; Wim Ruitenbeek; Fons J M Gabreëls; Willy O Renier; J C Fischer; A J Janssen
Disturbed oxidative metabolism in subacute necrotizing encephalomyelopathy (Leigh syndrome).
Neuropediatrics 1986;17(1):28-32.
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: P M Van Erven; Fons J M Gabreëls; Wim Ruitenbeek; M R Den Hartog; J C Fischer; Willy O Renier; J M F Trijbels; J L Slooff; A J Janssen
Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver.
Acta neurologica Scandinavica 1985;72(1):36-42.
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: 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.
1982: L A Bastiaensen; C W Frenken; Henk ter Laak; H H Jaspar; A M Stadhouders; Wim Ruitenbeek; J H Veerkamp
Kearns syndrome: a heterogeneous group of disorders with CPEO, or a nosological entity?
Documenta ophthalmologica. Advances in ophthalmology 1982;52(3-4):207-25.