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Autor:
Hikmat, Omar, Isohanni, Pirjo, Keshavan, Nandaki, Ferla, Matteo P., Fassone, Elisa, Abbott, Mary-Alice, Bellusci, Marcello, Darin, Niklas, Dimmock, David, Ghezzi, Daniele, Houlden, Henry, Invernizzi, Federica, Kamarus Jaman, Nazreen B., Kurian, Manju A., Morava, Eva, Naess, Karin, Ortigoza-Escobar, Juan Darío, Parikh, Sumit, Pennisi, Alessandra, Barcia, Giulia, Tylleskär, Karin, Brackman, Damien, Wortmann, Saskia B., Taylor, Jenny C., Bindoff, Laurence Albert, Fellman, Vineta, Rahman, Shamima
Externí odkaz:
https://hdl.handle.net/11250/2982701
Autor:
Halligan, Rebecca, White, Fiona J., Schwahn, Bernd, Stepien, Karolina M., Kamarus Jaman, Nazreen, McSweeney, Mel, Kitchen, Steve, Gribben, Joanna, Dawson, Charlotte, Lewis, Katherine, Cregeen, David, Mundy, Helen, Santra, Saikat
Publikováno v:
Journal of Inherited Metabolic Disease Reports; May2021, Vol. 59 Issue 1, p52-59, 8p
Autor:
Hikmat O; Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, 5021, Norway.; Department of Clinical Medicine (K1), University of Bergen, Norway., Isohanni P; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Keshavan N; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ferla MP; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Fassone E; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK., Abbott MA; Medical Genetics, Department of Pediatrics, UMass Chan Medical School, Baystate, USA., Bellusci M; Reference Center for Hereditary Metabolic Disorders - MetabERN, '12 de Octubre' University Hospital, Madrid, Spain.; Instituto de Investigación Hospital 12 de Octubre (imas12), Madrid, Spain., Darin N; Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden., Dimmock D; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20126, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Houlden H; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, United Kingdom., Invernizzi F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20126, Italy., Kamarus Jaman NB; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Kurian MA; Neurogenetics Group, Developmental Neurosciences, Zayed Centre for Research into Rare Diseases in Children, UCL Great Ormond Street Institute of Child Health, London, UK., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Metabolic Center, University Hospitals Leuven, Leuven, 3000, Belgium., Naess K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain., Parikh S; Neuroscience Institute, Cleveland Clinic, Cleveland, OH, USA., Pennisi A; Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker - Enfants Malades Hospital, Paris, France., Barcia G; Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker - Enfants Malades Hospital, Paris, France., Tylleskär KB; Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, 5021, Norway., Brackman D; Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, 5021, Norway., Wortmann SB; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Radboud Center for Mitochondrial Medicine (RCMM), Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Taylor JC; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, Norway.; Neuro-SysMed Center of Excellence for Clinical Research in Neurological Diseases, Department of Neurology, Haukeland University Hospital, Bergen, 5021, Norway., Fellman V; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Clinical Sciences, Lund University, Paediatrics, Sweden., Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 Nov; Vol. 8 (11), pp. 2155-2165. Date of Electronic Publication: 2021 Oct 18.
Autor:
Halligan R; Inherited Metabolic Disorders Birmingham Children's Hospital Birmingham UK.; Inherited Metabolic Diseases Evelina London Children's Hospital London UK., White FJ; Willink Unit Manchester Childen's Hospital Manchester UK., Schwahn B; Willink Unit Manchester Childen's Hospital Manchester UK., Stepien KM; Adult Inherited Metabolic Medicine Salford Royal Hospital NHS Foundation Trust Salford UK., Kamarus Jaman N; Metabolic Medicine Department Great Ormond Street Hospital London UK., McSweeney M; Metabolic Medicine Department Great Ormond Street Hospital London UK., Kitchen S; Inherited Metabolic Disorders Birmingham Children's Hospital Birmingham UK., Gribben J; Inherited Metabolic Diseases Evelina London Children's Hospital London UK., Dawson C; Inherited Metabolic Diseases Queen Elizabeth Hospital Birmingham UK., Lewis K; Inherited Metabolic Diseases Guy's and St Thomas' NHS Foundation Trust London UK., Cregeen D; Inherited Metabolic Diseases Evelina London Children's Hospital London UK., Mundy H; Inherited Metabolic Diseases Evelina London Children's Hospital London UK., Santra S; Inherited Metabolic Disorders Birmingham Children's Hospital Birmingham UK.
Publikováno v:
JIMD reports [JIMD Rep] 2021 Jan 24; Vol. 59 (1), pp. 52-59. Date of Electronic Publication: 2021 Jan 24 (Print Publication: 2021).