Diagnosis and treatment of methylmalonic aciduria: A case report;Diagnóstico y tratamiento de la aciduria metilmalónica: A propósito de un caso

Investigacion Clinica

Volumn 48, Issue 1, 2007, Pages 99-105

  Mahfoud, Antonieta ^a,e   Domínguez, Carmen L ^a   Pérez, Analy ^b   Rizzo, Cristiano ^c   Merinero, Begoña ^d   Pérez, Belén ^d  

^a Instituto Internacional de Estudios Avanzados IDEA   (Venezuela)

^b Policlinica Metropolitana   (Venezuela)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^e Fundacion Instituto de Estudios Avanzados IDEA   (Venezuela)

Author keywords

Methylmalonic aciduria; Methylmalonyl CoA mutase deficiency; Organic acids

Indexed keywords

METHYLMALONYL COENZYME A MUTASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; MALE; METHYLMALONIC ACIDURIA; PRESCHOOL CHILD; URINALYSIS;

ACIDOSIS; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; COMA; DIET, PROTEIN-RESTRICTED; DISEASES IN TWINS; FERTILIZATION IN VITRO; GENES, RECESSIVE; HUMANS; MALE; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MUTATION, MISSENSE; POINT MUTATION; TWINS, DIZYGOTIC; VITAMIN B 12; VOMITING;

EID: 34248162845     PISSN: 05355133     EISSN: 05355133     Source Type: Journal    
DOI: None     Document Type: Article

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