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International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Parini, Rossella; Broomfield, Alexander; Cleary, Maureen A; De Meirleir, Linda; Di Rocco, Maja; Fathalla, Waseem M; Guffon, Nathalie; Lampe, Christina; Lund, Allan M; Scarpa, Maurizio; Tylki-Szymanska, Anna; Zeman, Jirí.
Afiliação
  • Parini R; Rare Metabolic Diseases Unit, Paediatric Clinic, MBBM Foundation, San Gerardo University Hospital, Monza, Italy.
  • Broomfield A; TIGET Institute, IRCCS San Raffaele Hospital, Milano, Italy.
  • Cleary MA; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.
  • De Meirleir L; Metabolic Unit, Great Ormond Street Hospital NHS Trust, London, UK.
  • Di Rocco M; Department of Pediatric Neurology and Metabolic Diseases, UZ Brussel, Brussels, Belgium.
  • Fathalla WM; Unit of Rare Diseases, Department of Pediatrics, IRCCS Giannina Gaslini, Genova, Italy.
  • Guffon N; Division of Paediatric Neurology, Department of Paediatrics, Mafraq Hospital, Abu Dhabi, UAE.
  • Lampe C; Reference Centre of Metabolic Diseases, HFME Hospital, Bron, France.
  • Lund AM; Children's Hospital, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
  • Scarpa M; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Tylki-Szymanska A; Department of Pediatrics, University of Padova, Padova, Italy.
  • Zeman J; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Acta Paediatr ; 107(12): 2059-2065, 2018 12.
Article em En | MEDLINE | ID: mdl-30242902
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Mucopolissacaridose I Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Acta Paediatr Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália País de publicação: Noruega
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Mucopolissacaridose I Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Acta Paediatr Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália País de publicação: Noruega