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The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
Deodato, Federica; Boenzi, Sara; Taurisano, Roberta; Semeraro, Michela; Sacchetti, Elisa; Carrozzo, Rosalba; Dionisi-Vici, Carlo.
Afiliação
  • Deodato F; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. Electronic address: federica.deodato@opbg.net.
  • Boenzi S; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. Electronic address: sara.boenzi@opbg.net.
  • Taurisano R; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. Electronic address: roberta.taurisano@opbg.net.
  • Semeraro M; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. Electronic address: michela.semeraro@opbg.net.
  • Sacchetti E; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. Electronic address: elisa.sacchetti@opbg.net.
  • Carrozzo R; Unit of Neuromuscular Diseases, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. Electronic address: rosalba.carrozzo@opbg.net.
  • Dionisi-Vici C; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. Electronic address: carlo.dionisivici@opbg.net.
Clin Chim Acta ; 486: 387-394, 2018 Nov.
Article em En | MEDLINE | ID: mdl-30153451
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Esfingomielina Fosfodiesterase / Doença de Niemann-Pick Tipo C / Oxisteróis / Lisina Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Clin Chim Acta Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Esfingomielina Fosfodiesterase / Doença de Niemann-Pick Tipo C / Oxisteróis / Lisina Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Clin Chim Acta Ano de publicação: 2018 Tipo de documento: Article