Tom J de Koning
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- 2006
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Mark
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation
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- Contribution to journal › Article
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Mark
Treatment with amino acids in serine deficiency disorders
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- Contribution to journal › Article
- 2005
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Mark
The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria
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- Contribution to journal › Article
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Mark
Ornithine aminotransferase deficiency : Diagnostic difficulties in neonatal presentation
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- Contribution to journal › Article
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Mark
Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency
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- Contribution to journal › Article
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Mark
D-Amino acids in the central nervous system in health and disease
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- Contribution to journal › Scientific review
- 2004
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Mark
Glutathione synthetase deficiency associated with antenatal cerebral bleeding
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- Contribution to journal › Article
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Mark
Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood
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- Contribution to journal › Article
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Mark
Energy expenditure in patients with propionic and methylmalonic acidaemias
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- Contribution to journal › Article
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Mark
Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik
(
- Contribution to journal › Article