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- 2007
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Mark
CDG-Id in two siblings with partially different phenotypes
(
- Contribution to journal › Article
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Mark
COG8 deficiency causes new congenital disorder of glycosylation type IIh
(
- Contribution to journal › Article
- 2006
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Mark
The congenital disorders of glycosylation: a multifaceted group of syndromes.
(
- Contribution to journal › Article
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Mark
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation
(
- Contribution to journal › Article
-
Mark
Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality
(
- Contribution to journal › Article
-
Mark
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation
(
- Contribution to journal › Article
- 2005
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Mark
Essentials of glycosylation
(
- Contribution to journal › Scientific review
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Mark
Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy
(
- Contribution to journal › Article
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Mark
Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx
(
- Contribution to journal › Article
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Mark
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology
(
- Contribution to journal › Article