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Clinical, biochemical and molecular characterization of prosaposin deficiency.
Motta, M; Tatti, M; Furlan, F; Celato, A; Di Fruscio, G; Polo, G; Manara, R; Nigro, V; Tartaglia, M; Burlina, A; Salvioli, R.
Afiliación
  • Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Tatti M; Department of Haematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Furlan F; Division of Inherited Metabolic Diseases, University Hospital, Padua, Italy.
  • Celato A; Division of Inherited Metabolic Diseases, University Hospital, Padua, Italy.
  • Di Fruscio G; Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples, Italy.
  • Polo G; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
  • Manara R; Division of Inherited Metabolic Diseases, University Hospital, Padua, Italy.
  • Nigro V; Division of Inherited Metabolic Diseases, University Hospital, Padua, Italy.
  • Tartaglia M; Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples, Italy.
  • Burlina A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
  • Salvioli R; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Clin Genet ; 90(3): 220-9, 2016 09.
Article en En | MEDLINE | ID: mdl-26831127
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Esfingolípidos / Encéfalo / Saposinas / Leucodistrofia Metacromática Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Esfingolípidos / Encéfalo / Saposinas / Leucodistrofia Metacromática Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Año: 2016 Tipo del documento: Article País de afiliación: Italia