161 – 170 of 193
- show: 10
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2000
-
Mark
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
(
- Contribution to journal › Article
-
Mark
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation : An updated nomenclature for CDG
(
- Contribution to journal › Letter
-
Mark
Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome
(
- Contribution to journal › Article
-
Mark
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency
(
- 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
Hyperketonaemia in glycerol kinase deficiency
(
- Contribution to journal › Article
-
Mark
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
(
- Contribution to journal › Article
-
Mark
Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency
(
- Contribution to journal › Letter
-
Mark
De lange termijn effecten van enzymbehandeling bij de ziekte van Gaucher type 1 en 3
(
- Contribution to journal › Article
- 1999
-
Mark
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation : An updated nomenclature for CDG
(
- Contribution to journal › Letter