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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg, Stefan; van Geest, Ferdy S; Abaci, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautem P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F M; Coutant, Régis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Huynh, Tony; Klosowska, Anna; van der Knaap, Marjo S; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta.
Afiliación
  • Groeneweg S; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands.
  • van Geest FS; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands.
  • Abaci A; Division of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
  • Alcantud A; Pediatric Neurology Section, Hospital Francesc de Borja de Gandia, Valencia, Spain.
  • Ambegaonkar GP; Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Armour CM; Regional Genetics Program, Children's Hospital of Eastern Ontario, and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Bakhtiani P; University of Louisville, Louisville, KY, USA.
  • Barca D; Paediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania; Department of Neurosciences, Paediatric Neurology Discipline II, Carol Davila University of Medicine, Bucharest, Romania.
  • Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital IRCCS, Rome, Italy.
  • van Beynum IM; Sophia Children's Hospital, Division of Paediatric Cardiology, Erasmus Medical Centre, Rotterdam, Netherlands.
  • Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Bugiani M; Department of Child Neurology, Center for Childhood White Matter Diseases, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, Netherlands; Department of Pathology, Amsterdam Neuroscience, Amsterdam University Medical C
  • Cappa M; Division of Endocrinology, Bambino Gesu' Children's Research Hospital IRCCS, Rome, Italy.
  • Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Castellotti B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Castiglioni C; Departamento de Neurologia Pediatrica, Clinica Las Condes, Santiago, Chile.
  • Chatterjee K; Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
  • de Coo IFM; Department of Paediatric Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
  • Coutant R; Department of Pediatric Endocrinology and Diabetology, University Hospital, Angers, France.
  • Craiu D; Paediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania; Department of Neurosciences, Paediatric Neurology Discipline II, Carol Davila University of Medicine, Bucharest, Romania.
  • Crock P; John Hunter Children's Hospital and University of Newcastle, Newcastle, NSW, Australia.
  • DeGoede C; Lancashire Teaching Hospitals NHS Trust, Lancashire, UK.
  • Demir K; Division of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
  • Dica A; Paediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania; Department of Neurosciences, Paediatric Neurology Discipline II, Carol Davila University of Medicine, Bucharest, Romania.
  • Dimitri P; Sheffield Children's NHS Foundation Trust, Sheffield Hallam University and University of Sheffield, Sheffield, UK.
  • Dolcetta-Capuzzo A; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands; Università Vita-Salute San Raffaele, Milan, Italy.
  • Dremmen MHG; Division of Paediatric Radiology, Erasmus Medical Centre, Rotterdam, Netherlands.
  • Dubey R; Medanta Superspeciality Hospital, Indore, India.
  • Enderli A; Department of Neuropediatrics, University Children's Hospital Zurich, Zürich, Switzerland.
  • Fairchild J; Department of Diabetes and Endocrinology, Women's and Children's Hospital, North Adelaide, SA, Australia.
  • Gallichan J; Plymouth Hospitals NHS Trust, Plymouth, UK.
  • George B; Department of Endocrinology, St. John's Medical College Hospital, Bengaluru, Karnataka, India.
  • Gevers EF; Centre for Endocrinology, William Harvey Research institute, Queen Mary University London, London, UK; Dept of Paediatric Endocrinology, Barts Health NHS Trust, London, UK.
  • Hackenberg A; Department of Neuropediatrics, University Children's Hospital Zurich, Zürich, Switzerland.
  • Halász Z; Department of Paediatrics, Semmelweis University, Budapest, Hungary.
  • Heinrich B; Department of Neuropediatrics, University Children's Hospital Zurich, Zürich, Switzerland.
  • Huynh T; Department of Endocrinology & Diabetes, Queensland Children's Hospital, South Brisbane, QLD, Australia; Department of Chemical Pathology, Mater Pathology, South Brisbane, QLD, Australia; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.
  • Klosowska A; Medical University of Gdansk, Department of Paediatrics, Haematology & Oncology, Department of General Nursery, Gdansk, Poland.
  • van der Knaap MS; Department of Child Neurology, Center for Childhood White Matter Diseases, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, Netherlands.
  • van der Knoop MM; Department of Paediatric Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
  • Konrad D; Division of Pediatric Endocrinology and Diabetology and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
  • Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center (Radboudumc), Nijmegen, Netherlands.
  • Krude H; Department of Paediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Lawson-Yuen A; Genomics Institute Mary Bridge Children's Hospital, MultiCare Health System Tacoma, WA, USA.
  • Lebl J; Department of Paediatrics, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic.
  • Linder-Lucht M; Division of Neuropediatrics and Muscular Disorders, Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.
  • Lorea CF; Teaching Hospital of Universidade Federal de Pelotas, Pelotas, Brazil.
  • Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, Brazil.
  • Lunsing RJ; Department of Child Neurology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
  • Lyons G; Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Lancet Diabetes Endocrinol ; 8(7): 594-605, 2020 07.
Article en En | MEDLINE | ID: mdl-32559475
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Biomarcadores / Transportadores de Ácidos Monocarboxílicos / Simportadores / Trastornos del Neurodesarrollo / Trastornos Mentales / Enfermedades Musculares Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Lancet Diabetes Endocrinol Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Biomarcadores / Transportadores de Ácidos Monocarboxílicos / Simportadores / Trastornos del Neurodesarrollo / Trastornos Mentales / Enfermedades Musculares Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Lancet Diabetes Endocrinol Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos