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From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Zielonka, Matthias; Garbade, Sven F; Gleich, Florian; Okun, Jürgen G; Nagamani, Sandesh C S; Gropman, Andrea L; Hoffmann, Georg F; Kölker, Stefan; Posset, Roland.
Afiliação
  • Zielonka M; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Garbade SF; Heidelberg Research Center for Molecular Medicine (HRCMM), Heidelberg, Germany.
  • Gleich F; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Okun JG; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Nagamani SCS; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Gropman AL; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.
  • Hoffmann GF; Division of Neurodevelopmental Pediatrics and Neurogenetics, Children's National Health System and The George Washington School of Medicine, Washington, District of Columbia.
  • Kölker S; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Posset R; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Hum Mutat ; 41(5): 946-960, 2020 05.
Article em En | MEDLINE | ID: mdl-31943503
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Predisposição Genética para Doença / Acidúria Argininossuccínica / Estudos de Associação Genética / Genótipo Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Predisposição Genética para Doença / Acidúria Argininossuccínica / Estudos de Associação Genética / Genótipo Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha