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New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
Sorrentino, Nicolina Cristina; Presa, Maximiliano; Attanasio, Sergio; Cacace, Vincenzo; Sofia, Martina; Zuberi, Aamir; Ryan, Jennifer; Ray, Somdatta; Petkovic, Igor; Radhakrishnan, Karthikeyan; Schlotawa, Lars; Ballabio, Andrea; Lutz, Cathleen; Brunetti-Pierri, Nicola.
Afiliação
  • Sorrentino NC; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Presa M; Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
  • Attanasio S; The Jackson Laboratory, Bar Harbor, Maine, USA.
  • Cacace V; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Sofia M; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Zuberi A; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Ryan J; The Jackson Laboratory, Bar Harbor, Maine, USA.
  • Ray S; The Jackson Laboratory, Bar Harbor, Maine, USA.
  • Petkovic I; The Jackson Laboratory, Bar Harbor, Maine, USA.
  • Radhakrishnan K; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Schlotawa L; Faculty of Chemistry, Biochemistry I, Bielefeld University, Bielefeld, Germany.
  • Ballabio A; Department of Paediatrics and Adolescent Medicine, University Medical Centre Göttingen, Göttingen, Germany.
  • Lutz C; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Brunetti-Pierri N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
J Inherit Metab Dis ; 46(2): 335-347, 2023 03.
Article em En | MEDLINE | ID: mdl-36433920
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos / Doença da Deficiência de Múltiplas Sulfatases Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos / Doença da Deficiência de Múltiplas Sulfatases Idioma: En Ano de publicação: 2023 Tipo de documento: Article