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Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
Levtova, Alina; Waters, Paula J; Buhas, Daniela; Lévesque, Sébastien; Auray-Blais, Christiane; Clarke, Joe T R; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A; Brunel-Guitton, Catherine; Braverman, Nancy E.
Afiliação
  • Levtova A; Division of Medical Genetics, Department of Medicine, Centre Hospitalier de l'Université de Montréal (CHUM) and Université de Montréal, Tour Viger, 900 rue St-Denis, R07-462, Montreal, Quebec H2X 0A9, Canada.
  • Waters PJ; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, 3175 Côte-Sainte-Catherine, Montreal, Quebec H3T 1C5, Canada.
  • Buhas D; Division of Medical Genetics, Department of Pediatrics, Université de Sherbrooke, CHUS, 3001 12th Avenue North, Sherbrooke, Quebec J1H 5N4, Canada.
  • Lévesque S; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Auray-Blais C; Departments of Medical Genetics and Pediatrics, Montreal Children's Hospital, Montreal, Quebec, Canada.
  • Clarke JTR; Division of Medical Genetics, Department of Pediatrics, Université de Sherbrooke, CHUS, 3001 12th Avenue North, Sherbrooke, Quebec J1H 5N4, Canada.
  • Laframboise R; Division of Medical Genetics, Department of Pediatrics, Université de Sherbrooke, CHUS, 3001 12th Avenue North, Sherbrooke, Quebec J1H 5N4, Canada.
  • Maranda B; Division of Medical Genetics, Department of Pediatrics, Université de Sherbrooke, CHUS, 3001 12th Avenue North, Sherbrooke, Quebec J1H 5N4, Canada.
  • Mitchell GA; Department of Pediatrics, Laval University Hospital Centre, Quebec, Quebec, Canada.
  • Brunel-Guitton C; Division of Medical Genetics, Department of Pediatrics, Université de Sherbrooke, CHUS, 3001 12th Avenue North, Sherbrooke, Quebec J1H 5N4, Canada.
  • Braverman NE; Department of Pediatrics, Laval University Hospital Centre, Quebec, Quebec, Canada.
J Inherit Metab Dis ; 42(1): 107-116, 2019 01.
Article em En | MEDLINE | ID: mdl-30740739
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coenzima A Ligases / Erros Inatos do Metabolismo / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coenzima A Ligases / Erros Inatos do Metabolismo / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article