Expanding the clinical spectrum of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review-Reference-Cited by-同舟云学术

Expanding the clinical spectrum of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review

Published:2020-04-07 Issue:7 Volume:182 Page:1608-1614
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kılıç Mustafa¹^ORCID,Dorum Sevil²,Topak Ali³,Yazıcı Mutlu U.⁴,Ezgu Fatih S.⁵,Coskun Turgay⁶

Affiliation:

1. Sami Ulus Children Hospital, Metabolism Unit Ankara Turkey

2. Department of Pediatrics, Metabolism Unit Yuksek Ihtisas Training and Research Hospital Bursa Turkey

3. Medical Genetic Unit Yuksek Ihtisas Training and Research Hospital Bursa Turkey

4. Sami Ulus Children Hospital, Intensive Care Unit Ankara Turkey

5. Department of Pediatrics, Metabolism Unit Gazi University Ankara Turkey

6. Department of Pediatrics, Metabolism Unit Hacettepe University Ankara Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61590

Reference24 articles.

1. Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency

2. Genetic basis of mitochondrial HMG-CoA synthase deficiency

3. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Clinical Course and Description of Causal Mutations in Two Patients

4. Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene

5. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

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