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      • Record: found
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      Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

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          Abstract

          The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications, affected patients were identified during the investigation of various complaints.

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          Author and article information

          Journal
          Journal ID (iso-abbrev): J Inherit Metab Dis
          Title: Journal of inherited metabolic disease
          Publisher: Wiley
          ISSN (Electronic): 1573-2665
          ISSN (Print): 0141-8955
          Publication date (Electronic): January 2019
          Volume: 42
          Issue: 1
          Affiliations
          [1 ] 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.
          [2 ] Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, 3175 Côte-Sainte-Catherine, Montreal, Quebec H3T 1C5, Canada.
          [3 ] Division of Medical Genetics, Department of Pediatrics, Université de Sherbrooke, CHUS, 3001 12th Avenue North, Sherbrooke, Quebec J1H 5N4, Canada.
          [4 ] Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
          [5 ] Departments of Medical Genetics and Pediatrics, Montreal Children's Hospital, Montreal, Quebec, Canada.
          [6 ] Department of Pediatrics, Laval University Hospital Centre, Quebec, Quebec, Canada.
          Article
          DOI: 10.1002/jimd.12032
          PubMed ID: 30740739
          SO-VID: d0bdb134-3294-47ad-ad1a-63d436dae870
          Copyright © © 2018 SSIEM.
          History

          Keywords: malonic aciduria,methylmalonic aciduria,newborn screening, ACSF3,CMAMMA,Combined malonic and methylmalonic aciduria,benign
          Data availability:
          Keywords: malonic aciduria, methylmalonic aciduria, newborn screening, ACSF3, CMAMMA, Combined malonic and methylmalonic aciduria, benign

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