J. M. F. Trijbels

Biochemistry, Genetics and Molecular Biology · Life Sciences

39h-index5.5kcitations177works0.02yr avg
OpenAlex↗Google Scholar↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Metabolism and Genetic Disorders(104), Mitochondrial Function and Pathology(70), Biochemical and Molecular Research(20), ATP Synthase and ATPases Research(19), Folate and B Vitamins Research(16)

Publications176 total

Metabolic Myopathies Associated with Stunted Growth1
Monographs in human genetics·2015· 1 cited
Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver
Acta Neurologica Scandinavica·2009· 39 cited
Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy
Acta Neurologica Scandinavica·2009· 31 cited
Therapeutic Options in OXPHOS Disorders
Medical intelligence unit·2007
Neonatal Lactic Acidosis, Complex I/IV Deficiency, and Fetal Cerebral Disruption
Neuropediatrics·2005· 31 cited
Oxidative Phosphorylation in Health and Disease
2005· 9 cited
Biochemical Diagnosis of OXPHOS Disorders
2004· 1 cited
Prenatal Diagnostics in Oxidative Phosphorylation Disorders
2004
Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency
Annals of Neurology·2002· 81 cited
Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency
Prenatal Diagnosis·2001· 14 cited
Infantile Presentation of the mtDNA A3243G tRNALeu (UUR) Mutation
Neuropediatrics·2001· 24 cited
Respiratory chain complex I deficiency
American Journal of Medical Genetics·2001· 189 cited
New technique for diagnosis and monitoring of alcaptonuria: quantification of homogentisic acid in urine with mid-infrared spectrometry
Analytica Chimica Acta·2001· 20 cited
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.
PubMed·2001· 12 cited
Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene
Biochemical and Biophysical Research Communications·2000· 185 cited
Dilated cardiomyopathy associated with isolated congenital complete atrioventricular block
2000
Capillaire elektroforese en DNA-fragmentanalyse.
Data Archiving and Networked Services (DANS)·2000
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
Annals of Neurology·1999· 192 citedOpen Access
Treatment and molecular analysis of neonatal carnitine palmitoyltransferase II deficiency.
Radboud Repository (Radboud University)·1999· 3 cited
cDNA of Eight Nuclear Encoded Subunits of NADH:Ubiquinone Oxidoreductase: Human Complex I cDNA Characterization Completed
Biochemical and Biophysical Research Communications·1998· 86 cited
page 1 of 9Next →

Frequent Co-authors

R. C. A. Sengers(16), A.J.M. Janssen(15), W. Ruitenbeek(12), A. M. Stadhouders(9), Johan Fischer(8), L.A.H. Monnens(7), J.H. Veerkamp(6), G. H. J. Boers(6), Henk J. Blom(6), J. A. J. M. Bakkeren(6), Lambertus P. van den Heuvel(5), Jan Smeıtınk(5), J. L. Willems(4), F.J.M. Gabreëls(4), H. J. ter Laak(4), Ad M. Stadhouders(3), Ralf Triepels(3), Carin A. F. Buskens(3), Roel Smeets(3), P. G. Barth(3)