Congenital Disorder of Glycosylation Type Id: Clinical Phenotype, Molecular Analysis, Prenatal Diagnosis, and Glycosylation of Fetal Proteins-Reference-Cited by-同舟云学术

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Congenital Disorder of Glycosylation Type Id: Clinical Phenotype, Molecular Analysis, Prenatal Diagnosis, and Glycosylation of Fetal Proteins

Published:2005-08 Issue:2 Volume:58 Page:248-253
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Denecke Jonas,Kranz Christian,Von Kleist-Retzow Juergen Ch,Bosse Kristin,Herkenrath Peter,Debus Otfried,Harms Erik,Marquardt Thorsten

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference29 articles.

1. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

2. Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen

3. Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

4. Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

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1. Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG;Journal of Inherited Metabolic Disease;2024-04-10

2. ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings;BMC Ophthalmology;2021-06-05

3. Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG;Journal of Inherited Metabolic Disease;2021-03

4. N- and O-glycan analysis for the detection of glycosylation disorders;Egyptian Journal of Medical Human Genetics;2021-01-06

5. Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG;Brain and Development;2020-08

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