Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score-Reference-Cited by-同舟云学术

Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score

Published:2020-12 Issue: Volume:315 Page:24-32
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Lamiquiz-Moneo Itziar,Mateo-Gallego Rocio,Fernández-Pardo Jacinto,López-Ariño Chuan,Marco-Benedí Victoria,Bea Ana M.^ORCID,Ferraro Lia^ORCID,Jarauta Estibaliz,Cenarro Ana,Civeira Fernando

Funder

Gobierno de Aragón

Ministry of Economy and Competitiveness

CIBERCV

Instituto de Salud Carlos III

European Regional Development Fund

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference34 articles.

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2. Dysmorphic features in patients with complex glycerol kinase deficiency;Scheuerle;J. Pediatr.,1995

3. Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation;Sjarif;Eur. J. Hum. Genet.,2004

4. Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait;Gaudet;Am. J. Hum. Genet.,2000

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