FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

J M F Trijbels

Research Profile

Anatomy

Chemicals & Drugs

Living Beings

Phenomena

Oxidation-Reduction

Disorders

Concepts & Ideas

Reference Values

Co-author Network

Publications

TOP 3
H L M van Straaten; J P van Tintelen; J M F Trijbels; Lambert P van den Heuvel; D Troost; J M Rozemuller; M Duran; L S de Vries; M Schuelke; P G Barth
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.
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.
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.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of J M F Trijbels (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2005: H L M van Straaten; J P van Tintelen; J M F Trijbels; Lambert P van den Heuvel; D Troost; J M Rozemuller; M Duran; L S de Vries; M Schuelke; P G Barth
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.
Neuropediatrics 2005;36(3):193-9.
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: Lydia A Afman; N M J van der Put; Chris M G Thomas; J M F Trijbels; Henk J Blom
Reduced vitamin B12 binding by transcobalamin II increases the risk of neural tube defects.
QJM : monthly journal of the Association of Physicians 2001;94(3):159-66.
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: 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: 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: 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: 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: 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.
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: 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: 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: G P Gerrits; S Kamphuis; Leo A H Monnens; J M F Trijbels; Cornelis H Schröder; A Koster; Fons J M Gabreëls
Cerebrospinal fluid levels of amino acids in infants and young children with chronic renal failure.
Neuropediatrics 1998;29(1):35-9.
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.
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: N M J van der Put; EF van der Molen; Leo A J Kluijtmans; Sandra G Heil; J M F Trijbels; Tom K A B Eskes; D Van Oppenraaij-Emmerzaal; R Banerjee; Henk J Blom
Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease.
QJM : monthly journal of the Association of Physicians 1997;90(8):511-7.
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: H A Bentlage; Udo Wendel; Hermann Schägger; Henk ter Laak; A J Janssen; J M F Trijbels
Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle.
Neurology 1996;47(1):243-8.
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: M T te Poele-Pothoff; M van den Berg; D G Franken; Godfried H J Boers; C Jakobs; I F de Kroon; Tom K A B Eskes; J M F Trijbels; Henk J Blom
Three different methods for the determination of total homocysteine in plasma.
Annals of clinical biochemistry 1995;32 ( Pt 2)():218-20.
1995: Henk J Blom; H A Kleinveld; Godfried H J Boers; Pierre N M Demacker; H L Hak-Lemmers; M T Te Poele-Pothoff; J M F Trijbels
Lipid peroxidation and susceptibility of low-density lipoprotein to in vitro oxidation in hyperhomocysteinaemia.
European journal of clinical investigation 1995;25(3):149-54.
1995: L A VanAerts; C M Poirot; C A Herberts; H J Blom; Ronney A De Abreu; J M F Trijbels; Tom K A B Eskes; J H Peereboom-Stegeman; J Noordhoek
Development of methionine synthase, cystathionine-beta-synthase and S-adenosyl-homocysteine hydrolase during gestation in rats.
Journal of reproduction and fertility 1995;103(2):227-32.
1994: D G Franken; Godfried H J Boers; Henk J Blom; J M F Trijbels
Effect of various regimens of vitamin B6 and folic acid on mild hyperhomocysteinaemia in vascular patients.
Journal of inherited metabolic disease 1994;17(1):159-62.
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: G P Gerrits; Fons J M Gabreëls; Leo A H Monnens; Ronney A De Abreu; B van Raaij-Selten; Klary E Niezen-Koning; J M F Trijbels
Argininosuccinic aciduria: clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines.
Neuropediatrics 1993;24(1):15-8.
1993: G P Gerrits; Leo A H Monnens; Fons J M Gabreëls; Ronney A De Abreu; A Koster; J M F Trijbels
Cerebrospinal fluid amino acids, purines and pyrimidines as a tool in the study of metabolic brain diseases.
Journal of inherited metabolic disease 1993;16(4):670-5.
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: Henk J Blom; R A Wevers; A Verrips; M T TePoele-Pothoff; J M F Trijbels
Cerebrospinal fluid homocysteine and the cobalamin status of the brain.
Journal of inherited metabolic disease 1993;16(3):517-9.
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: 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: 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: F A Reubsaet; J H Veerkamp; M L Brückwilder; J M F Trijbels; T Hashimoto; Leo A H Monnens
Immunochemical and biochemical studies of fatty acid oxidation in fibroblasts of Zellweger and X-linked adrenoleukodystrophy patients.
Biochimica et biophysica acta 1991;1083(3):305-9.
1991: F A Reubsaet; M L Brückwilder; J H Veerkamp; J M F Trijbels; T Hashimoto; Leo A H Monnens
Immunochemical analysis of the peroxisomal beta-oxidation enzymes in rat and human heart and skeletal muscle and in skeletal muscle of Zellweger patients.
Biochemical medicine and metabolic biology 1991;45(2):197-203.
1991: I F de Coo; Fons J M Gabreëls; Willy O Renier; J J de Pont; U J van Haelst; J H Veerkamp; J M F Trijbels; H H Jaspar; K Renkawek
Canavan disease: neuromorphological and biochemical analysis of a brain biopsy specimen.
Clinical neuropathology 1991;10(2):73-8.
1991: G P Gerrits; Leo A H Monnens; Ronney A De Abreu; Cornelis H Schröder; J M F Trijbels; Fons J M Gabreëls
Disturbances of cerebral purine and pyrimidine metabolism in young children with chronic renal failure.
Nephron 1991;58(3):310-4.
1991: F A Reubsaet; J H Veerkamp; M L Brückwilder; J M F Trijbels; Leo A H Monnens
Peroxisomal oxidases and catalase in liver and kidney homogenates of normal and di(ethylhexyl)phthalate-fed rats.
The International journal of biochemistry 1991;23(9):961-7.
1991: Henk J Blom; Godfried H J Boers; A Tangerman; William A Gahl; J M F Trijbels
Alternative methionine degradation via the transamination pathway: an option for therapy for homocystinuria due to cystathionine synthase deficiency.
Journal of inherited metabolic disease 1991;14(3):375-8.
1990: F A Reubsaet; J H Veerkamp; H A Dirven; M L Brückwilder; T Hashimoto; J M F Trijbels; Leo A H Monnens
The effect of di(ethylhexyl)phthalate on fatty acid oxidation and carnitine palmitoyltransferase in various rat tissues.
Biochimica et biophysica acta 1990;1047(3):264-70.
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: F A Reubsaet; J H Veerkamp; M L Brückwilder; J M F Trijbels; Leo A H Monnens
The involvement of fatty acid binding protein in peroxisomal fatty acid oxidation.
FEBS letters 1990;267(2):229-30.
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: F A Reubsaet; J H Veerkamp; J M F Trijbels; Leo A H Monnens
Total and peroxisomal oxidation of various saturated and unsaturated fatty acids in rat liver, heart and m. quadriceps.
Lipids 1989;24(11):945-50.
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: Henk J Blom; Godfried H J Boers; J M F Trijbels; J J van Roessel; Albert Tangerman
Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia.
Metabolism: clinical and experimental 1989;38(6):577-82.
1989: H P Peters; M A van Erp-Baart; J M F Trijbels; J W Elvers
Reproducibility of urinary 3-methylhistidine excretion in human subjects consuming freely selected diets.
Metabolism: clinical and experimental 1989;38(5):397-403.
1989: H L Busard; Willy O Renier; Fons J M Gabreëls; J M F Trijbels; A J Janssen; Karel J B Lamers
Pyruvate metabolism in Lafora disease.
Epilepsia 1989;30(3):314-7.
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: F A Reubsaet; J H Veerkamp; S G Bukkens; J M F Trijbels; Leo A H Monnens
Acyl-CoA oxidase activity and peroxisomal fatty acid oxidation in rat tissues.
Biochimica et biophysica acta 1988;958(3):434-42.
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: Cornelis H Schröder; Leo A H Monnens; H M van Lith-Zanders; J M F Trijbels; J H Veerkamp
The urinary excretion of total hydroxylysine and its glycosides in normal persons, and in patients suffering from Alport's syndrome--contribution of the peptide-bound fraction.
Nephron 1987;47(4):253-7.
1987: J M F Trijbels; Leo A H Monnens; G Melis; M van den Broekvan Essen; M Bruckwilder
Localization of pipecolic acid metabolism in rat liver peroxisomes: probable explanation for hyperpipecolataemia in Zellweger syndrome.
Journal of inherited metabolic disease 1987;10(2):128-34.
1987: W F M Arts; Hans R Scholte; M C Loonen; H Przyrembel; J Fernandes; J M F Trijbels; I E Luyt-Houwen
Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.
Journal of the neurological sciences 1987;77(1):103-15.
1986: P M Van Erven; J C Fischer; Fons J M Gabreëls; Willy O Renier; J M F Trijbels; A J Janssen
Defect of NADH dehydrogenase in Leigh syndrome.
Acta neurologica Scandinavica 1986;74(2):167.
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.
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: Fons J M Gabreëls; M J Prick; J M F Trijbels; Willy O Renier; H H Jaspar; A J Janssen; J L Slooff
Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy.
Acta neurologica Scandinavica 1984;70(3):145-54.
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.
1983: M J Prick; Fons J M Gabreëls; J M F Trijbels; A J Janssen; R le Coultre; K van Dam; H H Jaspar; E J Ebels; A A Op de Coul
Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients.
Clinical neurology and neurosurgery 1983;85(1):57-70.
1982: M J Prick; Fons J M Gabreëls; Willy O Renier; J M F Trijbels; J L Willems; A J Janssen; J L Slooff; J A Geelen; J P de Jager
Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts.
Neuropediatrics 1982;13(2):108-11.
1981: M J Prick; Fons J M Gabreëls; Willy O Renier; J M F Trijbels; R C Sengers; J L Slooff
Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver.
Archives of neurology 1981;38(12):767-72.
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.