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Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.
Komatsuzaki, Shoko; Zielonka, Matthias; Mountford, William K; Kölker, Stefan; Hoffmann, Georg F; Garbade, Sven F; Ries, Markus.
Afiliação
  • Komatsuzaki S; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
  • Zielonka M; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Mountford WK; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. matthias.zielonka@med.uni-heidelberg.de.
  • Kölker S; Heidelberg Research Center for Molecular Medicine (HRCMM), Heidelberg, Germany. matthias.zielonka@med.uni-heidelberg.de.
  • Hoffmann GF; Department of Clinical Research, School of Nursing, College of Health and Human Services, University of North Carolina at Wilmington, Wilmington, NC, USA.
  • Garbade SF; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Ries M; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Genet Med ; 21(10): 2208-2215, 2019 10.
Article em En | MEDLINE | ID: mdl-30899093

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucodistrofia de Células Globoides Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucodistrofia de Células Globoides Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos