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Last Updated: 10/31/2025

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Found 20 publications

Genetic disorders of dolichol synthesis and utilization.

Genetic disorders of dolichol synthesis and utilization.

Journal: Molecular genetics and metabolism
Published: July 08, 2025

A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG.

A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG.

Journal: PLoS genetics
Published: June 20, 2024

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder.

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder.

Journal: Cell reports
Published: June 10, 2024

DPAGT1-CDG: Recurrent fetal death.

DPAGT1-CDG: Recurrent fetal death.

Journal: Birth defects research
Published: January 11, 2023

Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.

Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: December 25, 2022

A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.

A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.

Journal: International journal of molecular sciences
Published: July 29, 2022

Congenital Disorders of Glycosylation from a Neurological Perspective.

Congenital Disorders of Glycosylation from a Neurological Perspective.

Journal: Brain sciences
Published: November 28, 2020

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Journal: The Journal of pediatrics
Published: August 04, 2020

Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene.

Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene.

Journal: Cell journal
Published: December 25, 2019

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Journal: Clinical genetics
Published: November 23, 2018

UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase is indispensable for oogenesis, oocyte-to-embryo transition, and larval development of the nematode Caenorhabditis elegans.

UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase is indispensable for oogenesis, oocyte-to-embryo transition, and larval development of the nematode Caenorhabditis elegans.

Journal: Glycobiology
Published: July 05, 2018

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

Journal: JIMD reports
Published: April 20, 2018
Showing 1-12 of 20

Last Updated: 10/31/2025