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A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.
Zielonka, Matthias; Garbade, Sven F; Kölker, Stefan; Hoffmann, Georg F; Ries, Markus.
Afiliação
  • Zielonka M; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. matthias.zielonka@med.uni-heidelberg.de.
  • Garbade SF; Heidelberg Research Center for Molecular Medicine (HRCMM), Heidelberg, Germany. matthias.zielonka@med.uni-heidelberg.de.
  • Kölker S; Center for Rare Diseases, University Hospital Heidelberg, Heidelberg, Germany. matthias.zielonka@med.uni-heidelberg.de.
  • Hoffmann GF; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Ries M; Center for Rare Diseases, University Hospital Heidelberg, Heidelberg, Germany.
Genet Med ; 21(2): 347-352, 2019 02.
Article em En | MEDLINE | ID: mdl-29875421
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença do Armazenamento de Ácido Siálico Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença do Armazenamento de Ácido Siálico Idioma: En Ano de publicação: 2019 Tipo de documento: Article