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- 2000
-
Mark
Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome
(
- Contribution to journal › Article
- 1999
-
Mark
Continuing education in neurometabolic disorders - Serine deficiency disorders
(
- Contribution to journal › Scientific review
-
Mark
Pontocerebellar hypoplasia associated with respiratory-chain defects
(
- 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
-
Mark
A novel disorder of N-glycosylation due to phosphomannose isomerase 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
- 1996
-
Mark
Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring [2]
(
- Contribution to journal › Letter
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