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The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.
Polo, Giulia; Gueraldi, Daniela; Giuliani, Antonella; Rubert, Laura; Cazzorla, Chiara; Salviati, Leonardo; Marzollo, Antonio; Biffi, Alessandra; Burlina, Alessandro P; Burlina, Alberto B.
Afiliação
  • Polo G; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, Italy.
  • Gueraldi D; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, Italy.
  • Giuliani A; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, Italy.
  • Rubert L; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, Italy.
  • Cazzorla C; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, Italy.
  • Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
  • Marzollo A; Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
  • Biffi A; Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
  • Burlina AP; Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy.
  • Burlina AB; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, Italy.
Clin Chem Lab Med ; 58(12): 2063-2072, 2020 11 26.
Article em En | MEDLINE | ID: mdl-32432561
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridose I / Glicosaminoglicanos / Iduronidase Limite: Humans / Newborn Idioma: En Revista: Clin Chem Lab Med Assunto da revista: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália
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: Mucopolissacaridose I / Glicosaminoglicanos / Iduronidase Limite: Humans / Newborn Idioma: En Revista: Clin Chem Lab Med Assunto da revista: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália