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Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
Tylki-Szymanska, Anna; De Meirleir, Linda; Di Rocco, Maja; Fathalla, Waseem M; Guffon, Nathalie; Lampe, Christina; Lund, Allan M; Parini, Rossella; Wijburg, Frits A; Zeman, Jiri; Scarpa, Maurizio.
Afiliação
  • Tylki-Szymanska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
  • De Meirleir L; Department of Paediatric Neurology and Metabolic Diseases, Brussels, Belgium.
  • Di Rocco M; Unit of Rare Diseases, Department of Paediatrics, IRCCS Giannina Gaslini, Genova, Italy.
  • Fathalla WM; Division of Child Neurology, Department of Pediatrics, Mafraq Hospital, Bani Yas, Abu Dhabi, United Arab Emirates.
  • Guffon N; Reference Centre of Metabolic Diseases, Hôpital Femme Mère Enfant (HFME), Bron, France.
  • Lampe C; Center for Rare Diseases, Clinic for Paediatric and Adolescent Medicine, HELIOS Dr. Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany.
  • Lund AM; Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Parini R; Rare Metabolic Diseases Unit, Paediatric Clinic, Fondazione MBBM, San Gerardo University Hospital, Monza, Italy.
  • Wijburg FA; Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.
  • Zeman J; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Scarpa M; Center for Rare Diseases, Clinic for Paediatric and Adolescent Medicine, HELIOS Dr. Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany.
Acta Paediatr ; 107(8): 1402-1408, 2018 08.
Article em En | MEDLINE | ID: mdl-29797470
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Algoritmos / Triagem Neonatal / Mucopolissacaridose I / Diagnóstico Precoce Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Acta Paediatr Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Algoritmos / Triagem Neonatal / Mucopolissacaridose I / Diagnóstico Precoce Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Acta Paediatr Ano de publicação: 2018 Tipo de documento: Article