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- 2009
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Mark
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics
(
- Contribution to journal › Article
- 1998
-
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