Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.

Chiong, Mary Anne D; Canson, Daffodil M; Abacan, Mary Ann R; Baluyot, Melissa Mae P; Cordero, Cynthia P; Silao, Catherine Lynn T

Chiong, Mary Anne D; Canson, Daffodil M; Abacan, Mary Ann R; Baluyot, Melissa Mae P; Cordero, Cynthia P; Silao, Catherine Lynn T.

Afiliação

Chiong MA; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines. mdchiong1@up.edu.ph.
Canson DM; Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Philippines. mdchiong1@up.edu.ph.
Abacan MA; Department of Pediatrics, College of Medicine, University of Santo Tomas, Manila, Philippines. mdchiong1@up.edu.ph.
Baluyot MM; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines.
Cordero CP; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines.
Silao CL; Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Philippines.

Orphanet J Rare Dis ; 12(1): 7, 2017 01 11.

Article em En | MEDLINE | ID: mdl-28077157

Assuntos

Mucopolissacaridose II/sangue; Mucopolissacaridose II/metabolismo; Adolescente; Criança; Códon sem Sentido/genética; Éxons/genética; Feminino; Mutação da Fase de Leitura/genética; Glicosaminoglicanos/sangue; Glicosaminoglicanos/metabolismo; Humanos; Iduronato Sulfatase/genética; Iduronato Sulfatase/metabolismo; Doenças por Armazenamento dos Lisossomos/sangue; Doenças por Armazenamento dos Lisossomos/genética; Doenças por Armazenamento dos Lisossomos/metabolismo; Masculino; Mucopolissacaridose II/genética; Mutação; Mutação de Sentido Incorreto/genética; Filipinas

Palavras-chave

Glycosaminoglycans; Hunter syndrome; Iduronate-2-sulfatase gene; Lysosomal storage disease; Mucopolysaccharidosis type II

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Adolescent / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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