Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype-Reference-Cited by-同舟云学术

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Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype

Published:2017-08-17 Issue:9 Volume:173 Page:2428-2434
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rush Eric T.¹²³^ORCID,Baker Craig V.⁴,Rizzo William B.¹³

Affiliation:

1. Department of Pediatrics; University of Nebraska Medical Center; Omaha Nebraska

2. Munroe-Meyer Institute for Genetics and Rehabilitation; University of Nebraska Medical Center; Omaha Nebraska

3. Children's Hospital & Medical Center; Omaha Nebraska

4. Department of Pediatrics-Division of Medical Genetics; UTHealth McGovern Medical School; Houston Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38287/fullpdf

Reference18 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Genetic defects in dolichol metabolism;Buczkowska;Journal of Inherited Metabolic Disease,2015

3. From glycosylation disorders to dolichol biosynthesis defects: A new class of metabolic diseases;Cantagrel;Journal of Inherited Metabolic Disease,2011

4. A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency;Cline;Molecular Biology of the Cell,2012

5. Hypoglycosylation due to dolichol metabolism defects;Denecke;Biochimica et Biophysica Acta,2009

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers;PLOS Genetics;2024-09-11

2. Syndromic ichthyoses;Medizinische Genetik;2023-04-03

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

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

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

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