Phenotypic heterogeneity in the presentation of d-2-hydroxyglutaric aciduria in monozygotic twins-Reference-Cited by-同舟云学术

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Phenotypic heterogeneity in the presentation of d-2-hydroxyglutaric aciduria in monozygotic twins

Published:2005-09 Issue:1-2 Volume:86 Page:200-205
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Misra Vinod K.,Struys Eduard A.,O’Brien William,Salomons Gajja S.,Glover Thomas,Jakobs Cornelis,Innis Jeffrey W.

Publisher

Elsevier BV

Subject

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

Cited by 21 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. Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs;2023-08-04

2. Disorders of Metabolism of Amino Acids and Related Compounds;Genetic Disorders and the Fetus;2021-04-20

3. Organic Acidemias and Disorders of Fatty Acid Oxidation;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

4. Chemical individuality in T cells: A Garrodian view of immunometabolism;Immunological Reviews;2020-03-31

5. D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene;Molecular Genetics and Metabolism Reports;2019-09

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