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Akademický článek

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

Autor: Ghosh A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.; School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Mercer J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK., Mackinnon S; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, London, UK., Yue WW; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, London, UK., Church H; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK., Beesley CE; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Broomfield A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK., Jones SA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK., Tylee K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

Publikováno v: Human mutation [Hum Mutat] 2017 Nov; Vol. 38 (11), pp. 1555-1568. Date of Electronic Publication: 2017 Aug 17.

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Akademický článek

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Autor: Baruteau J; Gene Transfer Technology Group, Institute for Women's Health, University College London, London, UK. julien.baruteau@gosh.nhs.uk.; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK. julien.baruteau@gosh.nhs.uk.; Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, UK. julien.baruteau@gosh.nhs.uk., Jameson E; Metabolic Medicine Department, Royal Manchester Children Hospital NHS Foundation Trust, Manchester, UK., Morris AA; Metabolic Medicine Department, Royal Manchester Children Hospital NHS Foundation Trust, Manchester, UK., Chakrapani A; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.; Metabolic Medicine Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK., Santra S; Metabolic Medicine Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK., Vijay S; Metabolic Medicine Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK., Kocadag H; Gene Transfer Technology Group, Institute for Women's Health, University College London, London, UK., Beesley CE; North East Thames Regional Genetic Services, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Cleary M; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK., Mundy H; Metabolic Medicine Department, Evelina Children's Hospital, London, UK., Abulhoul L; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK., Broomfield A; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.; Metabolic Medicine Department, Royal Manchester Children Hospital NHS Foundation Trust, Manchester, UK., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Rahman Y; Metabolic Medicine Department, St Thomas Hospital, London, UK., Robinson PH; Paediatric Metabolic Medicine, Royal Hospital for Sick Children, Glasgow, UK., MacPherson L; Neuroradiology Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK., Foster K; Neuroradiology Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK., Chong WK; Neuroradiology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Ridout DA; Population, Policy and Practice Programme, UCL Institute of Child Health, London, UK., Bounford KM; West Midlands Regional Genetic Laboratory, Birmingham Women's Hospital, Birmingham, UK., Waddington SN; Gene Transfer Technology Group, Institute for Women's Health, University College London, London, UK.; Wits/SAMRC Antiviral Gene Therapy Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Mills PB; Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, UK., Gissen P; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.; Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, UK.; MRC Laboratory for Molecular Cell Biology, University College London, London, UK., Davison JE; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2017 May; Vol. 40 (3), pp. 357-368. Date of Electronic Publication: 2017 Mar 01.

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