Molecular genetics of HMG-CoA lyase deficiency

Molecular Genetics and Metabolism

Volumn 92, Issue 3, 2007, Pages 198-209

  Pié, Juan ^a   López Viñas, Eduardo ^b   Puisac, Beatriz ^a   Menao, Sebastián ^a   Pié, Angeles ^a   Casale, Cesar ^a   Ramos, Feliciano J ^a   Hegardt, Fausto G ^c   Gómez Puertas, Paulino ^b   Casals, Núria ^d  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b CSIC   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d UNIVERSITAT INTERNACIONAL DE CATALUNYA   (Spain)

Author keywords

3 Hydroxy 3 methyl glutaric aciduria; 3 Hydroxy 3 methylglutaryl CoA lyase; Enzyme activity; HL; Ketone body metabolism; Mutations; TIM barrel structure

Indexed keywords

3 HYDROXY 3 METHYLGLUTARYL COENZYME A; CARNITINE; GLUCOSE; LEUCINE; LYASE;

3 HYDROXY 3 METHYLGLUTARYL COENZYME A LYSATE DEFICIENCY; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; GENE FUNCTION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOGLYCEMIA; KETOGENESIS; LETHAL MUTANT; LIPOLYSIS; MISSENSE MUTATION; MOLECULAR GENETICS; POPULATION GENETICS; PRIORITY JOURNAL; PROGNOSIS; PROPHYLAXIS; PROTEIN DEGRADATION; PROTEIN STRUCTURE; RECESSIVE INHERITANCE; REVIEW; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; HUMANS; MOLECULAR BIOLOGY; MOLECULAR SEQUENCE DATA; MUTATION; OXO-ACID-LYASES; SEQUENCE HOMOLOGY, AMINO ACID;

BACTERIA (MICROORGANISMS);

EID: 34848918190     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.06.020     Document Type: Review

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