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- 2002
-
Mark
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency : Outcome of treatment with amino acids
(
- Contribution to journal › Article
- 2001
-
Mark
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
(
- Contribution to journal › Article
- 2000
-
Mark
Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome
(
- Contribution to journal › Article
-
Mark
Hyperketonaemia in glycerol kinase deficiency
(
- Contribution to journal › Article
- 1998
-
Mark
Alterations of hepatic peroxisomes in tyrosinaemia type I : Return to fetal type?
(
- Contribution to journal › Article
-
Mark
Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome
(
- 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
- 1978
-
Mark
Isolation and characterization of oligosaccharides from urine of patients with abnormal glycoconjugate metabolism
(
- Contribution to journal › Article
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