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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
-
Mark
Glutaric aciduria type III : A distinctive non-disease?
(
- Contribution to journal › Article
- 2001
-
Mark
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
(
- Contribution to journal › Article
- 2000
-
Mark
Hyperketonaemia in glycerol kinase deficiency
(
- Contribution to journal › Article
-
Mark
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency
(
- Contribution to journal › Article
-
Mark
Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome
(
- Contribution to journal › Article
-
Mark
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
(
- Contribution to journal › Article
-
Mark
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation : An updated nomenclature for CDG
(
- Contribution to journal › Letter
- 1999
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Mark
Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy : Editorial
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation : An updated nomenclature for CDG
(
- Contribution to journal › Letter