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- 2024
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Mark
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
(
- Contribution to journal › Article
- 2009
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Mark
Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus
(
- Contribution to journal › Article
- 2007
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Mark
CDG-Id in two siblings with partially different phenotypes
(
- Contribution to journal › Article
- 2006
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Mark
Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality
(
- Contribution to journal › Article
-
Mark
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation
(
- Contribution to journal › Article
- 2005
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Mark
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
(
- Contribution to journal › Article
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Mark
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia
(
- Contribution to journal › Article
- 2004
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Mark
Carbohydrate deficient glycoprotein syndrome type Ia
(
- Contribution to journal › Article
- 1998
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Mark
Rupture of a non-aneurysmatic aortic trunk in a patient with giant cell arteritis
(
- Contribution to journal › Letter