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| Carlin,Marcelo Paschoalete; Scherrer,Daniel Zanetti; Tommaso,Adriana Maria Alves De; Bertuzzo,Carmen Silvia; Steiner,Carlos Eduardo. |
| Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by deficiency of the enzymes that regulate the synthesis or degradation of glycogen. Types Ia and Ib are the most prevalent; while the former is caused by deficiency of glucose-6-phosphatase (G6Pase), the latter is associated with impaired glucose-6-phosphate transporter, where the catalytic unit of G6Pase is located. Over 85 mutations have been reported since the cloning of G6PC and SLC37A4 genes. In this study, twelve unrelated patients with clinical symptoms suggestive of GSDIa and Ib were investigated by using genetic sequencing of G6PC and SLC37A4 genes, being three confirmed as having GSD Ia, and two with GSD Ib. In seven of these patients no mutations... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: DNA-based diagnosis; Glycogen storage disease; G6PC; SLC37A4; Mutation. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400007 |
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| Dornelles,Alícia Dorneles; Pinto,Louise Lapagesse de Camargo; Paula,Ana Carolina de; Steiner,Carlos Eduardo; Lourenço,Charles Marques; Kim,Chong Ae; Horovitz,Dafne Dain Gandelman; Ribeiro,Erlane Marques; Valadares,Eugênia Ribeiro; Goulart,Isabela; Souza,Isabel C. Neves de; Neri,João Ivanildo da Costa; Santana-da-Silva,Luiz Carlos; Silva,Luiz Roberto; Ribeiro,Márcia; Oliveira Sobrinho,Ruy Pires de; Giuglianiand,Roberto; Schwartz,Ida Vanessa Doederlein. |
| Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alph-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Enzyme replacement therapy; Laronidase; Mucopolysaccharidosis Type I; Alph-L-iduronidase. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000100006 |
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