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- 2024
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Mark
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines
(
- Contribution to journal › Scientific review
- 2023
-
Mark
The Swedish COG6-CDG experience and a comprehensive literature review
(
- Contribution to journal › Article
- 2020
-
Mark
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
(
- Contribution to journal › Article
- 2018
-
Mark
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
(
- Contribution to journal › Article
-
Mark
DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2016
-
Mark
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
(
- Contribution to journal › Article
-
Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article
- 2015
-
Mark
Neurological Aspects of Human Glycosylation Disorders
(
- Contribution to journal › Scientific review
- 2012
-
Mark
Neurology of inherited glycosylation disorders
(
- Contribution to journal › Scientific review
- 2009
-
Mark
Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus
(
- Contribution to journal › Article
- 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
The congenital disorders of glycosylation: a multifaceted group of syndromes.
(
- 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
-
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
-
Mark
Essentials of glycosylation
(
- Contribution to journal › Scientific review
-
Mark
Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy
(
- Contribution to journal › Article
-
Mark
Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx
(
- Contribution to journal › Article
-
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
-
Mark
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts
(
- Contribution to journal › Article
- 2004
-
Mark
Carbohydrate deficient glycoprotein syndrome type Ia
(
- Contribution to journal › Article