Your browser doesn't support javascript.
loading
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia, Giulia; Pandithan, Dinusha; Ruzzenente, Benedetta; Assouline, Zahra; Pennisi, Alessandra; Ormieres, Clothilde; Besmond, Claude; Roux, Charles-Joris; Boddaert, Nathalie; Desguerre, Isabelle; Thorburn, David R; Bratkovic, Drago; Munnich, Arnold; Bonnefont, Jean-Paul; Rötig, Agnès; Steffann, Julie.
Affiliation
  • Barcia G; Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris. giulia.barcia@aphp.fr.
  • Pandithan D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide.
  • Ruzzenente B; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris.
  • Assouline Z; Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris.
  • Pennisi A; Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris.
  • Ormieres C; Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris.
  • Besmond C; Translational Genetics Laboratory, UMR U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris.
  • Roux CJ; Department of Pediatric Radiology, Hospital Necker Enfants Malades, Paris.
  • Boddaert N; Department of Pediatric Radiology, Hospital Necker Enfants Malades, Paris.
  • Desguerre I; Department of Pediatric Neurology, Hospital Necker-Enfants Malades, Paris.
  • Thorburn DR; Murdoch Children's Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052.
  • Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide.
  • Munnich A; Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de
  • Bonnefont JP; Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de
  • Rötig A; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris.
  • Steffann J; Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de
Haematologica ; 106(4): 1220-1225, 2021 Apr 01.
Article in En | MEDLINE | ID: mdl-33327715
Subject(s)
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amino Acyl-tRNA Synthetases / Anemia, Sideroblastic Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Haematologica Year: 2021 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amino Acyl-tRNA Synthetases / Anemia, Sideroblastic Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Haematologica Year: 2021 Type: Article