Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency-Reference-Cited by-同舟云学术

Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency

Published:2020-12 Issue:12 Volume:63 Page:104086
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Rojnueangnit Kitiwan,Maneechai Parisa,Thaweekul Patcharapa,Piriyanon Punnapat,Khositseth Sookkasem,Ittiwut Chupong,Chetruengchai Wanna^ORCID,Kamolvisit Wuttichart,Theerapanon Thanakorn,Suphapeetiporn Kanya,Porntaveetus Thantrira^ORCID,Shotelersuk Vorasuk

Funder

National Research Council of Thailand

Health Systems Research Institute

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference23 articles.

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3. The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice;Bagheri-Fam;PloS One,2020

4. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients;Bouchard;Pediatr. Res.,2001

5. Hepatic lipase, high density lipoproteins, and hypertriglyceridemia;Chatterjee;Am. J. Pathol.,2011

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