Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology.

da Rocha Siqueira, Thabata Caroline; de Souza, Carolina Fischinger Moura; Lompa, Paulo; Picarelli, Mercedes; Scheibel, Ilóite; Bender, Fernanda; Guidobono, Régis; Burin, Maira Graeff; Giugliani, Roberto

da Rocha Siqueira, Thabata Caroline; de Souza, Carolina Fischinger Moura; Lompa, Paulo; Picarelli, Mercedes; Scheibel, Ilóite; Bender, Fernanda; Guidobono, Régis; Burin, Maira Graeff; Giugliani, Roberto.

Afiliação

da Rocha Siqueira TC; Postgraduate Program in Child and Adolescent Health, UFRGS, Porto Alegre, RS, Brazil.
de Souza CF; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
Lompa P; Orthopedics and Traumatology Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
Picarelli M; Hospital São Lucas, PUCRS, Porto Alegre, RS, Brazil.
Scheibel I; Grupo Hospitalar Conceição, Porto Alegre, RS, Brazil.
Bender F; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
Guidobono R; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
Burin MG; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
Giugliani R; Postgraduate Program in Child and Adolescent Health, UFRGS, Porto Alegre, RS, Brazil. rgiugliani@hcpa.edu.br.

JIMD Rep ; 26: 99-102, 2016.

Article em En | MEDLINE | ID: mdl-26314583

Palavras-chave

Glycosaminoglycans; Hunter syndrome; Mucopolysaccharidoses; Osteoarticular disease; Selective screening

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Qualitative_research / Screening_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Brasil

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