Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.

Chapel-Crespo, Cristel; Gavrilov, Dimitar; Sowa, Mary; Myers, Jessica; Day-Salvatore, Debra-Lynn; Lynn, Haley; Regier, Debra; Starin, Danielle; Steenari, Maija; Schoonderwoerd, Kees; Abdenur, Jose E

Chapel-Crespo, Cristel; Gavrilov, Dimitar; Sowa, Mary; Myers, Jessica; Day-Salvatore, Debra-Lynn; Lynn, Haley; Regier, Debra; Starin, Danielle; Steenari, Maija; Schoonderwoerd, Kees; Abdenur, Jose E.

Afiliación

Chapel-Crespo C; CHOC Children's, Orange, CA, USA.
Gavrilov D; Mayo Clinic, Rochester, MN, USA.
Sowa M; CHOC Children's, Orange, CA, USA.
Myers J; University of Missouri, Columbia, MO, USA.
Day-Salvatore DL; Saint Peters University Hospital, New Brunswick, NJ, USA.
Lynn H; Children's Hospital of Wisconsin, Milwaukee, WI, USA.
Regier D; Children's National Medical Center, Washington DC, USA.
Starin D; CHOC Children's, Orange, CA, USA.
Steenari M; CHOC Children's, Orange, CA, USA.
Schoonderwoerd K; Erasmus University Medical Center, Rotterdam, the Netherlands.
Abdenur JE; CHOC Children's, Orange, CA, USA. Electronic address: jabdenur@choc.org.

Mol Genet Metab ; 128(1-2): 113-121, 2019.

Article en En | MEDLINE | ID: mdl-31395333

Asunto(s)

Carboxiliasas/deficiencia; Errores Innatos del Metabolismo/diagnóstico; Errores Innatos del Metabolismo/genética; Adolescente; Carboxiliasas/genética; Niño; Preescolar; Estudios de Cohortes; Femenino; Estudios de Seguimiento; Humanos; Lactante; Recién Nacido; Masculino; Malonil Coenzima A/genética; Errores Innatos del Metabolismo/dietoterapia; Ácido Metilmalónico; Mutación

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Carboxiliasas / Errores Innatos del Metabolismo Tipo de estudio: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

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