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- 2007
-
Mark
CDG-Id in two siblings with partially different phenotypes
(
- Contribution to journal › Article
-
Mark
COG8 deficiency causes new congenital disorder of glycosylation type IIh
(
- Contribution to journal › Article
- 2006
-
Mark
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation
(
- Contribution to journal › Article
- 2005
-
Mark
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology
(
- Contribution to journal › Article
-
Mark
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia
(
- Contribution to journal › Article
-
Mark
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
(
- Contribution to journal › Article
-
Mark
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig
(
- Contribution to journal › Article