Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

Journal of Inherited Metabolic Disease

Volumn 33, Issue 4, 2010, Pages 405-410

  Puisac, Beatriz ^a   Arnedo, María ^a   Casale, Cesar H ^b   Ribate, María Pilar ^a   Castiella, Tomás ^a   Ramos, Feliciano J ^a   Ribes, Antonia ^c   Pérez Cerdá, Celia ^d   Casals, Nuria ^e,g   Hegardt, Fausto G ^f,g   Pié, Juan ^a  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b DEPARTAMENTO DE QUÍMICA   (Argentina)

^c HOSPITAL CLÍNIC   (Spain)

^d CSIC   (Spain)

^e UNIVERSITAT INTERNACIONAL DE CATALUNYA   (Spain)

^f UNIVERSITY OF BARCELONA   (Spain)

^g Instituto de Salud Carlos III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXY 3 METHYLGLUTARIC ACID; HYDROXYMETHYLGLUTARYL COENZYME A LYASE; LEUCINE; MESSENGER RNA; 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE; ACID; LYASE;

3 HYDROXY 3 METHYLGLUTARIC ACIDURIA; ACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN; CONTROLLED STUDY; ENZYME ACTIVITY; HEART; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; KETOGENESIS; LETHARGY; LIVER; METABOLIC ACIDOSIS; PANCREAS; PANCREAS INJURY; PATHOPHYSIOLOGY; PROTEIN EXPRESSION; SEIZURE; SKELETAL MUSCLE; TESTIS; VOMITING; AGED; ANTIBODY SPECIFICITY; ENZYME ACTIVATION; ENZYMOLOGY; GENE EXPRESSION REGULATION; GENETICS; HEART MUSCLE; KIDNEY; MALE; METABOLISM; POINT MUTATION; URINE;

ACIDS; AGED; BRAIN; ENZYME ACTIVATION; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; KIDNEY; LIVER; MALE; MEGLUTOL; MUSCLE, SKELETAL; MYOCARDIUM; ORGAN SPECIFICITY; OXO-ACID-LYASES; PANCREAS; POINT MUTATION; RNA, MESSENGER; TESTIS;

EID: 77956061576     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9097-3     Document Type: Article

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