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Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang, Laura A; Mowafy, Samar; Herbst, Zackary M; Zhou, Zitao; Schlotawa, Lars; Radhakrishnan, Karthikeyan; Bentley, Brenna; Pham, Vi; Yu, Emily; Pillai, Nishitha R; Orchard, Paul J; De Castro, Mauricio; Vanderver, Adeline; Pasquali, Marzia; Gelb, Michael H; Ahrens-Nicklas, Rebecca C.
Afiliação
  • Adang LA; Division of Neurology, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Mowafy S; Department of Chemistry, University of Washington, Seattle, Washington, USA.
  • Herbst ZM; Pharmaceutical Chemistry Department, Faculty of Pharmacy, Misr International University, Abbassia, Egypt.
  • Zhou Z; Department of Chemistry, University of Washington, Seattle, Washington, USA.
  • Schlotawa L; Department of Chemistry, University of Washington, Seattle, Washington, USA.
  • Radhakrishnan K; Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, Germany.
  • Bentley B; Department of Chemistry, Biochemistry, Bielefeld University, Bielefeld, Germany.
  • Pham V; United MSD Foundation, Ocean Springs, Mississippi, USA.
  • Yu E; Division of Human Genetics, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Pillai NR; Division of Neurology, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Orchard PJ; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
  • De Castro M; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
  • Vanderver A; Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Pasquali M; Division of Neurology, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Gelb MH; Department of Pathology and ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah, USA.
  • Ahrens-Nicklas RC; Department of Chemistry, University of Washington, Seattle, Washington, USA.
J Inherit Metab Dis ; 47(2): 374-386, 2024 Mar.
Article em En | MEDLINE | ID: mdl-37870986
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos / Doença da Deficiência de Múltiplas Sulfatases Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos / Doença da Deficiência de Múltiplas Sulfatases Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article