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Biology of the Neonate|January 1, 1992
Postnatal development of pyruvate oxidation in quadriceps muscle of the ratW Sperl, R C Sengers, J M Trijbels, et al.European Journal of Pediatrics|March 1, 1992
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathiesW Sperl, W Ruitenbeek, R C Sengers, et al.Annals of Neurology|January 23, 1999
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndromeI F De Coo, W O Renier, W Ruitenbeek, et al.European Journal of Pediatrics|January 1, 1984
Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiencyR C Sengers, J M Trijbels, J A Bakkeren, et al.American Journal of Human Genetics|April 16, 1998
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunitL van den Heuvel, W Ruitenbeek, R Smeets, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disordersM H Ruiters, E A van Spronsen, O H Skjeldal, et al.Nucleosides, Nucleotides & Nucleic Acids|July 5, 2008
Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuriaA B P van Kuilenburg, J Meijer, D Dobritzsch, et al.American Journal of Human Genetics|December 18, 1997
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patientM Huizing, V Iacobazzi, L Ijlst, et al.Neuromuscular Disorders : NMD|July 23, 1998
Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch familiesP G Barth, R J Wanders, W Ruitenbeek, et al.Journal of the Neurological Sciences|July 1, 1997
Clinical heterogeneity in respiratory chain complex III deficiency in childhoodJ Mourmans, U Wendel, H A Bentlage, et al.Pageof 11