New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations-Reference-Cited by-同舟云学术

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New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

Published:2013-08 Issue:8 Volume:56 Page:411-415
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ramos Mónica,Menao Sebastián,Arnedo María,Puisac Beatriz,Gil-Rodríguez María Concepción,Teresa-Rodrigo María Esperanza,Hernández-Marcos María,Pierre Germaine,Ramaswami Uma,Baquero-Montoya Carolina,Bueno Gloria,Casale Cesar,Hegardt Fausto G.,Gómez-Puertas Paulino,Pié Juan

Funder

Diputación General de Aragón (DGA) (Grupo Consolidado B20)

European Social Fund

Spanish Ministry of Education and Science

Spanish Ministerio de Ciencia and Ministerio de Economía y Competitividad

Spanish Instituto de Salud Carlos III

European Commission

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference17 articles.

1. Physiological roles of ketone bodies as substrates and signals in mammalian tissues;Robinson;Physiol. Rev.,1980

2. Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase;Thompson;N. Engl. J. Med.,1997

3. Genetic basis of mitochondrial HMG-CoA synthase deficiency;Aledo;Hum. Genet.,2001

4. Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency;Morris;Pediatr. Res.,1998

5. Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency;Aledo;J. Inherit. Metab. Dis.,2006

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