A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy-Reference-Cited by-同舟云学术

A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy

Published:2007-03 Issue:3 Volume:80 Page:433-440
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kranz Christian,Jungeblut Christoph,Denecke Jonas,Erlekotte Anne,Sohlbach Christina,Debus Volker,Kehl Hans Gerd,Harms Erik,Reith Anna,Reichel Sonja,Gröbe Helfried,Hammersen Gerhard,Schwarzer Ulrich,Marquardt Thorsten

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. The ins(ide) and out(side) of dolichyl phosphate biosynthesis and recycling in the endoplasmic reticulum;Schenk;Glycobiology,2001

2. Brain dolichyl pyrophosphate phosphatase: solubilization, characterization, and differentia tion from dolichyl monophosphate phosphatase activity;Scher;J Biol Chem,1984

3. The chemistry and biosynthesis of selected bacterial capsular polymers;Troy;Annu Rev Microbiol,1979

4. Protein C-mannosylation is enzyme-catalysed and uses dolichyl-phosphate-mannose as a precursor;Doucey;Mol Biol Cell,1998

5. GPI-anchor biosynthesis;Takeda;Trends Biochem Sci,1995

Cited by 88 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. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants;Journal of Inherited Metabolic Disease;2024-06-21

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

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

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

5. Ichthyosis;Nature Reviews Disease Primers;2023-01-19