Tom J de Koning
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- 2007
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Mark
Van gen naar ziekte; de ziekte van Menkes : Koperdeficiëntie door een ATP7A-gendefect
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- Contribution to journal › Scientific review
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Mark
Cranial ultrasound in metabolic disorders presenting in the neonatal period : Characteristic features and comparison with MR imaging
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- Contribution to journal › Scientific review
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Mark
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.
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- Contribution to journal › Article
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Mark
Reviewing the role of the genes G72 and DAAO in glutamate neurotransmission in schizophrenia
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- Contribution to journal › Scientific review
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Mark
Quantification of free and total sialic acid excretion by LC-MS/MS
2007) In Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences 848(2). p.251-257(
- Contribution to journal › Article
- 2006
-
Mark
Disorders of GABA, glycine, serine, and proline
2006) p.43-48(
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
D-serine in the developing human central nervous system
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- Contribution to journal › Article
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Mark
Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism
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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
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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