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- 2013
-
Mark
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
(
- Contribution to journal › Article
- 2010
-
Mark
Fatal cerebral edema associated with serine deficiency in CSF
(
- Contribution to journal › Article
- 2007
-
Mark
Quantification of free and total sialic acid excretion by LC-MS/MS
2007) In Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences 848(2). p.251-257(
- Contribution to journal › Article
- 2004
-
Mark
Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik
(
- Contribution to journal › Article