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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
- 2023
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Mark
The Swedish COG6-CDG experience and a comprehensive literature review
(
- Contribution to journal › Article
- 2018
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Mark
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
(
- Contribution to journal › Article
- 2007
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Mark
COG8 deficiency causes new congenital disorder of glycosylation type IIh
(
- Contribution to journal › Article
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Mark
CDG-Id in two siblings with partially different phenotypes
(
- Contribution to journal › Article
- 2006
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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
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
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Mark
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig
(
- Contribution to journal › Article