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| Boy,Raquel; Pimentel,Márcia Mattos Gonçalves; Hemerly,Ana Paula; Silva,Maria do Perpétuo Socorro; Barreiro,Ana Paula; Almeida,José Carlos Cabral de; Llerena,Juan. |
| The authors report an additional case of partial monosomy of the long arm of chromosome 6 [46,XY,del (6)(q22 <font SIZE="3" face="Symbol">®</font> qter)]. Our patient has a large segment beyond 6q25 deleted, then severe psychomotor retardation is expected to occur. |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100024 |
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| Giugliani,Roberto; Federhen,Andressa; Muñoz Rojas,Maria Verônica; Vieira,Taiane; Artigalás,Osvaldo; Lapagesse Pinto,Louise; Azevedo,Ana Cecília; Acosta,Angelina; Bonfim,Carmen; Lourenço,Charles Marques; Chong Ae,Kim; Horovitz,Dafne; Bonfim,Denize; Norato,Denise; Marinho,Diane; Palhares,Durval; Santos,Emerson Santana; Ribeiro,Erlane; Valadares,Eugênia; Guarany,Fábio; Lucca,Gisele Rosone de; Pimentel,Helena; Souza,Isabel Neves de; Correa Neto,Jordão; Fraga,José Carlos; Goes,José Eduardo; Cabral,José Maria; Simionato,José; Llerena Jr.,Juan; Jardim,Laura; Giuliani,Liane; Silva,Luiz Carlos Santana da; Santos,Mara L.; Moreira,Maria Angela; Kerstenetzky,Marcelo; Ribeiro,Márcia; Ruas,Nicole; Barrios,Patricia; Aranda,Paulo; Honjo,Rachel; Boy,Raquel; Costa,Ronaldo; Souza,Carolina; Alcantara,Flavio F.; Avilla,Silvio Gilberto A.; Fagondes,Simone; Martins,Ana Maria. |
| Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mucopolisaccharidoses; Hurler syndrome; Hunter syndrome; Maroteaux-Lamy syndrome; Enzyme replacement therapy; Treatment guidelines. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400001 |
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