Guidelines for the Management of Mucopolysaccharidosis Type I

被引:83
作者
Martins, Ana Maria [1 ]
Dualibi, Ana Paula [2 ]
Norato, Denise [3 ]
Takata, Edna Tiemi [1 ]
Santos, Emerson S. [4 ]
Valadares, Eugenia Ribeiro [5 ]
Porta, Gilda [6 ]
de Luca, Gisele [7 ,8 ]
Moreira, Gustavo
Pimentel, Helena [9 ]
Coelho, Janice [10 ,11 ]
Brum, Jaime Moritz [12 ]
Semionato Filho, Jose [13 ]
Kerstenetzky, Marcelo Soares [14 ]
Guimaraes, Marcia R. [15 ]
Munoz Rojas, Maria Veronica [16 ]
Aranda, Paulo Cesar [17 ]
Pires, Ricardo Flores [18 ]
Faria, Rodrigo G. C. [19 ]
Vale Mota, Ronald Moura [19 ]
Matte, Ursula [20 ]
Caldeira, Zelita [21 ]
Guedes, Ferreira
机构
[1] Univ Fed Sao Paulo, Ctr Referencia Erros Inatos Metab, Sao Paulo, Brazil
[2] Univ Fed Sao Paulo, Discipline Otorrinolaringol Pediat, Sao Paulo, Brazil
[3] Pontificia Univ Catolica Campinas, Sao Paulo, Brazil
[4] Univ Ciencias Saude Alagoas, Maceio, Brazil
[5] Univ Fed Minas Gerais, Fac Med, Dept Propedeut Complementar, Belo Horizonte, MG, Brazil
[6] Univ Sao Paulo, Fac Med, Dept Pediat, Sao Paulo, Brazil
[7] Univ Fed Sao Paulo, Dept Psicobiol, Discipline Med & Biol Sono, Sao Paulo, Brazil
[8] Univ Estacio Sa, Florianopolis, SC, Brazil
[9] APAE, Triagem Neonatal, Salvador, BA, Brazil
[10] Univ Fed Rio Grande do Sul, Dept Bioquim ICBS, Porto Alegre, RS, Brazil
[11] Hosp Clin Porto Alegre, Serv Genet Med, Porto Alegre, RS, Brazil
[12] Hosp Reabilitacao, Med Lab Rede Sarah, Belo Horizonte, MG, Brazil
[13] Fundacao Hosp Estado Minas Gerais, Ctr Geral Pediat, Belo Horizonte, MG, Brazil
[14] Hosp Restauracao Pernambuco, Serv Hepatol Infantil, Recife, PE, Brazil
[15] Univ Fed Minas Gerais, Fac Med, Dept Oftalmol, Belo Horizonte, MG, Brazil
[16] Hosp Clin Porto Alegre, Setor Mucopolissacaridose, Serv Genet Med, Porto Alegre, RS, Brazil
[17] Hosp Evangel Londrina Parana, Serv Hematol, Londrina, Brazil
[18] Clin Doencas Metab Dr Ricardo Pires, Porto Alegre, RS, Brazil
[19] Hosp Socor, Serv Ortopedia Pediat, Belo Horizonte, MG, Brazil
[20] Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Ctr Pesquisas, Lab Terapia Genica, Porto Alegre, RS, Brazil
[21] Univ Fed Sao Paulo, Disciplina Disturbios Comunicacao Humana, Dept Fonoaudiol, Sao Paulo, Brazil
关键词
ENZYME-REPLACEMENT THERAPY; BONE-MARROW-TRANSPLANTATION; HEMATOPOIETIC-CELL TRANSPLANTATION; CARPAL-TUNNEL-SYNDROME; OBSTRUCTIVE SLEEP-APNEA; DRIED BLOOD SPOTS; HURLERS-SYNDROME; STORAGE DISEASES; ALDURAZYME(R) LARONIDASE; CARDIOVASCULAR CHANGES;
D O I
10.1016/j.jpeds.2009.07.005
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
[No abstract available]
引用
收藏
页码:S32 / S46
页数:15
相关论文
共 142 条
[1]  
ALLEN JL, 2004, J PEDIAT, V144, P581
[2]   Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I [J].
Anbu, AT ;
Mercer, J ;
Wraith, JE .
JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (01) :230-231
[3]  
[Anonymous], 1989, AM REV RESPIR DIS, V139, P559
[4]  
[Anonymous], PRINCIPLES PRACTICE
[5]   CORRECTION OF MUCOPOLYSACCHARIDOSIS TYPE-I FIBROBLASTS BY RETROVIRAL-MEDIATED TRANSFER OF THE HUMAN ALPHA-L-IDURONIDASE GENE [J].
ANSON, DS ;
BIELICKI, J ;
HOPWOOD, JJ .
HUMAN GENE THERAPY, 1992, 3 (04) :371-379
[6]   Anesthesia for an adult with mucopolysaccharidosis I [J].
Ard, JL ;
Bekker, A ;
Frempong-Boadu, AK .
JOURNAL OF CLINICAL ANESTHESIA, 2005, 17 (08) :624-626
[7]  
Aronovich EL, 1996, AM J HUM GENET, V58, P75
[8]   The ocular features of the mucopoly-saccharidoses [J].
Ashworth, JL ;
Biswas, S ;
Wraith, E ;
Lloyd, IC .
EYE, 2006, 20 (05) :553-563
[9]   Mucopolysaccharidoses and the eye [J].
Ashworth, JL ;
Biswas, S ;
Wraith, E ;
Lloyd, IC .
SURVEY OF OPHTHALMOLOGY, 2006, 51 (01) :1-17
[10]  
BACH G, 1993, AM J HUM GENET, V53, P330