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- 2015
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Mark
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C : an observational cohort study
(
- Contribution to journal › Article
- 2009
-
Mark
Recommendations on the diagnosis and management of Niemann-Pick disease type C
(
- Contribution to journal › Debate/Note/Editorial
- 2000
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Mark
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
(
- Contribution to journal › Article