Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation-Reference-Cited by-同舟云学术

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

Published:2013-12 Issue:4 Volume:110 Page:484-489
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Lieu Michelle T.,Ng Bobby G.,Rush Jeffrey S.,Wood Tim,Basehore Monica J.,Hegde Madhuri,Chang Richard C.,Abdenur Jose E.,Freeze Hudson H.,Wang Raymond Y.

Funder

The Rocket Fund

R01 DK55615

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference16 articles.

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4. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy;Kranz;Am. J. Hum. Genet.,2007

5. From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases;Cantagrel;J. Inherit. Metab. Dis.,2011

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1. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11

2. A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG);Endocrine, Metabolic & Immune Disorders - Drug Targets;2023-02

3. Phylogenetic analysis of promoter regions of human Dolichol kinase (DOLK) and orthologous genes using bioinformatics tools;Open Life Sciences;2023-01-01

4. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07

5. Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis;Frontiers in Genetics;2021-12-08