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- 2002
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Mark
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency : Outcome of treatment with amino acids
(
- Contribution to journal › Article
- 2000
-
Mark
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
(
- Contribution to journal › Article
- 1997
-
Mark
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
(
- Contribution to journal › Article