Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency-Reference-Cited by-同舟云学术

Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Published:2020-10 Issue: Volume:509 Page:83-90
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Wang Qiao,Yang Yan-Ling,Liu Min,Chen Jia-Jia,Li Xiao-qiao,Cao Bing-yan,Gong Chun-Xiu

Funder

Beijing Municipal Administration of Hospital Clinical Medicine Development of Special Funding Support

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference16 articles.

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3. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations;Pitt;J. Inherit. Metab. Dis.,2015

4. A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia;Lee;JIMD Rep.,2019

5. Mitochondrial HMG-CoA synthase deficiency: role of enzyme dimerization surface and characterization of three new patients;Puisac;Int. J. Mol. Sci.,2018

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