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The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan, Nandaki; Abdenur, Jose; Anderson, Glenn; Assouline, Zahra; Barcia, Giulia; Bouhikbar, Lamia; Chakrapani, Anupam; Cleary, Maureen; Cohen, Marta C; Feillet, François; Fratter, Carl; Hauser, Natalie; Jacques, Tom; Lam, Amanda; McCullagh, Helen; Phadke, Rahul; Rötig, Agnès; Sharrard, Mark; Simon, Mariella; Smith, Conrad; Sommerville, Ewen W; Taylor, Robert W; Yue, Wyatt W; Rahman, Shamima.
Affiliation
  • Keshavan N; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Abdenur J; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Anderson G; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA.
  • Assouline Z; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Barcia G; Department of Genetics, Necker Hospital-Sick Children, Paris, France.
  • Bouhikbar L; Department of Genetics, Necker Hospital-Sick Children, Paris, France.
  • Chakrapani A; GOSgene Centre for Translational Omics, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Cleary M; NIHR GOSH Biomedical Research Centre, London, UK.
  • Cohen MC; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Feillet F; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Fratter C; Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Hauser N; Reference Centre for Inherited Metabolic Diseases, Nancy, France.
  • Jacques T; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Lam A; Inova Translational Medicine Institute, Falls Church, VA, USA.
  • McCullagh H; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Phadke R; Neurometabolic Unit, National Hospital of Neurology and Neurosurgery, London, UK.
  • Rötig A; UCL Queen Square Institute of Neurology, London, UK.
  • Sharrard M; Department of Paediatric Neurology, Leeds Children's Hospital, Leeds, UK.
  • Simon M; UCL Queen Square Institute of Neurology, London, UK.
  • Smith C; Imagine Institute, Paris, France.
  • Sommerville EW; Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Taylor RW; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA.
  • Yue WW; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Rahman S; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Genet Med ; 22(1): 199-209, 2020 01.
Article in En | MEDLINE | ID: mdl-31462754
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ribonucleotide Reductases / Intestinal Pseudo-Obstruction / Cell Cycle Proteins / Mutation, Missense / Muscular Dystrophy, Oculopharyngeal Type of study: Clinical_trials / Prognostic_studies Limits: Female / Humans / Infant / Male / Newborn Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ribonucleotide Reductases / Intestinal Pseudo-Obstruction / Cell Cycle Proteins / Mutation, Missense / Muscular Dystrophy, Oculopharyngeal Type of study: Clinical_trials / Prognostic_studies Limits: Female / Humans / Infant / Male / Newborn Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United kingdom