Tom J de Koning
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- 2000
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Mark
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
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- Contribution to journal › Article
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Mark
Hyperketonaemia in glycerol kinase deficiency
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- Contribution to journal › Article
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Mark
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
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- Contribution to journal › Article
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Mark
Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency
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- Contribution to journal › Letter
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Mark
De lange termijn effecten van enzymbehandeling bij de ziekte van Gaucher type 1 en 3
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- Contribution to journal › Article
- 1999
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Mark
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation : An updated nomenclature for CDG
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- Contribution to journal › Letter
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Mark
Pontocerebellar hypoplasia associated with respiratory-chain defects
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- Contribution to journal › Article
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Mark
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
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- Contribution to journal › Article
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Mark
Continuing education in neurometabolic disorders - Serine deficiency disorders
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- Contribution to journal › Scientific review
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Mark
Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy : Editorial
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- Contribution to journal › Debate/Note/Editorial