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Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Khaikin, Yannay; Sidky, Sarah; Abdenur, Jose; Anastasi, Arnaud; Ballhausen, Diana; Buoni, Sabrina; Chan, Alicia; Cheillan, David; Dorison, Nathalie; Goldenberg, Alice; Goldstein, Jennifer; Hofstede, Floris C; Jacquemont, Marie-Line; Koeberl, Dwight D; Lion-Francois, Laurence; Lund, Allan Meldgaard; Mention, Karine; Mundy, Helen; O'Rourke, Declan; Pitelet, Gaele; Raspall-Chaure, Miquel; Tassini, Maria; Billette de Villemeur, Thierry; Williams, Monique; Salomons, Gajja S; Mercimek-Andrews, Saadet.
Afiliação
  • Khaikin Y; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
  • Sidky S; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada.
  • Abdenur J; Division of Metabolic Disorders, CHOC Children's, Hospital Orange, CA, USA.
  • Anastasi A; Department of Medicine, Centre Hospitalier Le Vinatier, Bron, France.
  • Ballhausen D; Center of Molecular Diseases, University Children's Hospital Lausanne, Lausanne, Switzerland.
  • Buoni S; Department of Molecular and Developmental Medicine, Section of Child Neurology and Psychiatry, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, Siena, Italy.
  • Chan A; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
  • Cheillan D; Service Maladies Héréditaires du Métabolisme, Groupement Hospitalier Est, Hospices Civils de Lyon - INSERM1060, Université de Lyon, Lyon France.
  • Dorison N; AP-HP Service de Neuropediatrie, Pathologie du Developpement, Hopital Trousseau, Paris, France.
  • Goldenberg A; Service de Génétique Médicale, CHU Rouen, Rouen, France.
  • Goldstein J; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
  • Hofstede FC; Wilhelmina Children's Hospital, Utrecht, The Netherlands.
  • Jacquemont ML; Unité de Génétique médicale, CHU La Réunion, Saint Pierre, France.
  • Koeberl DD; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
  • Lion-Francois L; Service de Neuropédiatrie, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
  • Lund AM; Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen, Denmark.
  • Mention K; Centre de référence des Maladies Héréditaires du métabolisme, Hopital Jeanne De Flandre, CHRU Lille, France.
  • Mundy H; Evelina Centre for Inherited Metabolic Disease, Goys and St Thomas NHS Foundation Trust, Evelina Children's Hospital, London, UK.
  • O'Rourke D; Temple Street Children's University Hospital, Temple Street, Dublin, Ireland.
  • Pitelet G; Department of Pediatrics, Chulenval, Nice, France.
  • Raspall-Chaure M; Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Tassini M; The NMR Center University of Siena, Siena, Italy.
  • Billette de Villemeur T; Sorbonne University UPMC GRC ConCer-LD and AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France.
  • Williams M; Department of Pediatrics, Sophia Childrens Hospital, Erasmus Medical Center, The Netherlands; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center & Neuroscience Campus, Amsterdam, The Netherlands.
  • Salomons GS; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center & Neuroscience Campus, Amsterdam, The Netherlands.
  • Mercimek-Andrews S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: saadet.andrews@sickkid
Eur J Paediatr Neurol ; 22(3): 369-379, 2018 May.
Article em En | MEDLINE | ID: mdl-29506905
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Guanidinoacetato N-Metiltransferase / Transtornos do Desenvolvimento da Linguagem / Transtornos dos Movimentos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Guanidinoacetato N-Metiltransferase / Transtornos do Desenvolvimento da Linguagem / Transtornos dos Movimentos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Ano de publicação: 2018 Tipo de documento: Article