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Last Updated: 10/31/2025

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Found 12 publications

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

Journal: American journal of medical genetics. Part A
Published: June 11, 2022

Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.

Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.

Journal: Molecular genetics and metabolism
Published: May 13, 2022

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.

Journal: Journal of inherited metabolic disease
Published: July 01, 2019

ALG9-CDG: New clinical case and review of the literature.

ALG9-CDG: New clinical case and review of the literature.

Journal: Molecular genetics and metabolism reports
Published: May 15, 2017

Congenital disorders of glycosylation: The Saudi experience.

Congenital disorders of glycosylation: The Saudi experience.

Journal: American journal of medical genetics. Part A
Published: March 24, 2017

Further Delineation of the ALG9-CDG Phenotype.

Further Delineation of the ALG9-CDG Phenotype.

Journal: JIMD reports
Published: July 13, 2015

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

Journal: European journal of human genetics : EJHG
Published: November 29, 2014

Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL.

Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL.

Journal: Journal of proteome research
Published: January 17, 2013

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.

Journal: JIMD reports
Published: February 15, 2011

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Journal: Human mutation
Published: October 29, 2009

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

Journal: American journal of medical genetics. Part A
Published: June 10, 2005

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

Journal: American journal of human genetics
Published: March 02, 2004
Showing 1-12 of 12

Last Updated: 10/31/2025