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1دورية أكاديمية
المؤلفون: Francyne Kubaski, Zackary M. Herbst, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Franciele B. Trapp, Rejane Gus, Alice B. O. Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Maria Teresa Sanseverino, Carolina Moura Fischinger de Souza, Matheus V. M. B. Wilke, Thiago Oliveira, Jose A. A. Magalhães, Roberto Giugliani
المصدر: JIMD Reports, Vol 63, Iss 2, Pp 162-167 (2022)
مصطلحات موضوعية: arylsulfatase A, metachromatic leukodystrophy, prenatal analysis, sulfatides, tandem mass spectrometry, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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2دورية أكاديمية
المؤلفون: Kubaski, Francyne, Herbst, Zackary M., Burin, Maira Graeff, Tirelli, Kristiane Michelin, Trapp, Franciele Barbosa, Kessler, Rejane Gus, Netto, Alice Brinckmann Oliveira, Facchin, Ana Carolina Brusius, Leistner-Segal, Sandra, Sanseverino, Maria Teresa Vieira, Souza, Carolina Fischinger Moura de, Wilke, Matheus Vernet Machado Bressan, Oliveira, Thiago, Magalhães, Jose Antonio de Azevedo, Giugliani, Roberto
مصطلحات موضوعية: Arylsulfatase A, Metachromatic leukodystrophy, Prenatal analysis, Sulfatides, Tandem mass spectrometry, Leucodistrofia metacromática, Triagem neonatal, Sulfoglicoesfingolipídeos, Líquido amniótico, Espectrometria de massas em Tandem
وصف الملف: application/pdf
العلاقة: JIMD reports. Heidelberg. Vol. 63 (2022), p. 162-167.; http://hdl.handle.net/10183/245625Test; 001145431