Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.

Zielonka, Matthias; Garbade, Sven F; Kölker, Stefan; Hoffmann, Georg F; Ries, Markus

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.
Garbade SF; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Kölker S; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Hoffmann GF; 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 ; 19(9): 983-988, 2017 09.

Article em En | MEDLINE | ID: mdl-28383542

Assuntos

Mucopolissacaridose VII/diagnóstico; Mucopolissacaridose VII/epidemiologia; Fatores Etários; Idade de Início; Biomarcadores; Estudos Transversais; Feminino; Testes Genéticos; Glucuronidase/metabolismo; Humanos; Masculino; Mucopolissacaridose VII/etiologia; Mucopolissacaridose VII/metabolismo; Fenótipo; Diagnóstico Pré-Natal; Avaliação de Sintomas

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Mucopolissacaridose VII Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google