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- 2016
-
Mark
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
(
- Contribution to journal › Article
-
Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article
- 2014
-
Mark
Serine synthesis disorders
2014) p.123-131(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2006
-
Mark
Disorders of GABA, glycine, serine, and proline
2006) p.43-48(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2000
-
Mark
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
(
- Contribution to journal › Article