Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses.

Jones, Simon A; Marsden, Deborah; Koutsoukos, Tony; Sniadecki, Jennifer; Tylee, Karen; Phillippo, Sarah; Kakkis, Emil

Jones, Simon A; Marsden, Deborah; Koutsoukos, Tony; Sniadecki, Jennifer; Tylee, Karen; Phillippo, Sarah; Kakkis, Emil.

Afiliação

Jones SA; Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK. Electronic address: simon.jones@mft.nhs.uk.
Marsden D; Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
Koutsoukos T; Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
Sniadecki J; Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
Tylee K; Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
Phillippo S; Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
Kakkis E; Ultragenyx Pharmaceutical Inc., Novato, CA, USA.

Mol Genet Metab ; 130(4): 255-261, 2020 08.

Article em En | MEDLINE | ID: mdl-32563631

Assuntos

Biomarcadores/urina; Terapia de Reposição de Enzimas/métodos; Glicosaminoglicanos/urina; Mucopolissacaridose II/patologia; Mucopolissacaridose I/patologia; Mucopolissacaridose VI/patologia; N-Acetilgalactosamina-4-Sulfatase/uso terapêutico; Criança; Pré-Escolar; Feminino; Seguimentos; Humanos; Lactente; Recém-Nascido; Masculino; Mucopolissacaridose I/enzimologia; Mucopolissacaridose I/terapia; Mucopolissacaridose I/urina; Mucopolissacaridose II/enzimologia; Mucopolissacaridose II/terapia; Mucopolissacaridose II/urina; Mucopolissacaridose VI/enzimologia; Mucopolissacaridose VI/terapia; Mucopolissacaridose VI/urina; Prognóstico; Estudos Retrospectivos

Palavras-chave

Enzyme replacement therapy; Mucopolysaccharidosis; Retrospective medical chart review; Urinary glycosaminoglycan

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Biomarcadores / Mucopolissacaridose II / Mucopolissacaridose I / Mucopolissacaridose VI / N-Acetilgalactosamina-4-Sulfatase / Terapia de Reposição de Enzimas / Glicosaminoglicanos Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2020 Tipo de documento: Article

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