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Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Oliva, Petra; Schwarz, Markus; Mechtler, Thomas P; Sansen, Stefaan; Keutzer, Joan; Prusa, Andrea-Romana; Streubel, Berthold; Kasper, David C.
Afiliação
  • Oliva P; ARCHIMED Life Science GmbH (ARCHIMEDlife), Vienna, Austria. Electronic address: p.oliva@archimedlife.com.
  • Schwarz M; ARCHIMED Life Science GmbH (ARCHIMEDlife), Vienna, Austria. Electronic address: m.schwarz@archimedlife.com.
  • Mechtler TP; ARCHIMED Life Science GmbH (ARCHIMEDlife), Vienna, Austria. Electronic address: t.mechtler@archimedlife.com.
  • Sansen S; Sanofi Genzyme, Amsterdam, Netherlands. Electronic address: Stefaan.Sansen@sanofi.com.
  • Keutzer J; Sanofi Genzyme, Amsterdam, Netherlands; Independent consultant, Littleton MA 01460, USA.
  • Prusa AR; Deptartment of Children and Adolescent Medicine, Medical University of Vienna, Vienna, Austria. Electronic address: andrea.prusa@meduniwien.ac.at.
  • Streubel B; Clinical Institute of Pathology, Medical University of Vienna, Vienna, Austria. Electronic address: berthold.streubel@meduniwien.ac.at.
  • Kasper DC; ARCHIMED Life Science GmbH (ARCHIMEDlife), Vienna, Austria. Electronic address: d.kasper@archimedlife.com.
Mol Genet Metab ; 139(1): 107563, 2023 05.
Article em En | MEDLINE | ID: mdl-37086570
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças de Niemann-Pick / Doença de Niemann-Pick Tipo A / Doença de Gaucher Tipo de estudo: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Child / Humans / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças de Niemann-Pick / Doença de Niemann-Pick Tipo A / Doença de Gaucher Tipo de estudo: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Child / Humans / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2023 Tipo de documento: Article