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Last Updated: 10/31/2025
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Found 20 publications
A Case of ALG6-CDG with Explosive Onset of Intractable Epilepsy During Infancy.
Journal: Child neurology open
Published: July 25, 2022
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
Journal: Molecular genetics & genomic medicine
Published: February 21, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
Journal: European journal of medical genetics
Published: February 17, 2020
N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression.
Journal: Circulation
Published: May 24, 2019
Epileptic spasms in congenital disorders of glycosylation.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: March 17, 2017
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
Journal: The Journal of pediatrics
Published: July 08, 2016
PMM2-CDG: phenotype and genotype in four affected family members.
Journal: Gene
Published: February 21, 2013
Congenital disorder of glycosylation type Ic: report of a Japanese case.
Journal: Brain & development
Published: October 20, 2011
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).
Journal: Molecular genetics and metabolism
Published: December 11, 2010
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.
Journal: Orphanet journal of rare diseases
Published: December 30, 2009
Last Updated: 10/31/2025