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Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Eskes, Eline C B; Sjouke, Barbara; Vaz, Frédéric M; Goorden, Susan M I; van Kuilenburg, André B P; Aerts, Johannes M F G; Hollak, Carla E M.
Afiliação
  • Eskes ECB; Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
  • Sjouke B; Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
  • Vaz FM; Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Gastroenterology & Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
  • Goorden SMI; Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Gastroenterology & Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
  • van Kuilenburg ABP; Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Gastroenterology & Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
  • Aerts JMFG; Leiden Institute of Chemistry, University of Leiden, Department of Medical Biochemistry, Einsteinweg 55, 2333 CC Leiden, The Netherlands.
  • Hollak CEM; Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address: c.e.hollak@amc.nl.
Mol Genet Metab ; 130(1): 16-26, 2020 05.
Article em En | MEDLINE | ID: mdl-32088119
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Doença de Niemann-Pick Tipo A / Doença de Niemann-Pick Tipo B Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Doença de Niemann-Pick Tipo A / Doença de Niemann-Pick Tipo B Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda