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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP-
dc.contributor.authorHOROVITZ, Dafne D. G.-
dc.contributor.authorMAGALHAES, Tatiana S. P. C.-
dc.contributor.authorACOSTA, Angelina-
dc.contributor.authorRIBEIRO, Erlane M.-
dc.contributor.authorGIULIANI, Liane R.-
dc.contributor.authorPALHARES, Durval B.-
dc.contributor.authorKIM, Chong A.-
dc.contributor.authorPAULA, Ana Carolina de-
dc.contributor.authorKERSTENESTZY, Marcelo-
dc.contributor.authorPIANOVSKI, Mara A. D.-
dc.contributor.authorCOSTA, Maria Ione F.-
dc.contributor.authorSANTOS, Francisca C.-
dc.contributor.authorMARTINS, Ana Maria-
dc.contributor.authorARANDA, Carolina S.-
dc.contributor.authorCORREA NETO, Jordao-
dc.contributor.authorHOLANDA, Gervina Brady Moreira-
dc.contributor.authorCARDOSO JR., Laercio-
dc.contributor.authorSILVA, Carlos A. B. da-
dc.contributor.authorBONATTI, Renata C. F.-
dc.contributor.authorRIBEIRO, Bethania F. R.-
dc.contributor.authorRODRIGUES, Maria do Carmo S.-
dc.contributor.authorLLERENA JR., Juan C.-
dc.identifier.citationMOLECULAR GENETICS AND METABOLISM, v.109, n.1, p.62-69, 2013-
dc.description.abstractBackground: Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal storage disease with a wide disease spectrum. Clinical and biochemical improvements have been reported for MPS VI patients on enzyme replacement therapy (ERT) with rhASB (recombinant human arylsulfatase B; galsulfase, Naglazyme (R), BioMarin Pharmaceutical Inc.), making early diagnosis and intervention imperative for optimal patient outcomes. Few studies have included children younger than five years of age. This report describes 34 MPS VI patients that started treatment with galsulfase before five years of age. Methods: Data from patients who initiated treatment at <5 years of age were collected from patients' medical records. Baseline and follow-up assessments of common symptoms that led to diagnosis and that were used to evaluate disease progression and treatment efficacy were evaluated. Results: A significant negative correlation was seen with treatment with ERT and urinary GAG levels. Of those with baseline and follow-up growth data, 47% remained on their pre-treatment growth curve or moved to a higher percentile after treatment. Of the 9 patients with baseline and follow-up sleep studies, 5 remained unaffected and 1 patient initially with mild sleep apnea showed improvement. Data regarding cardiac, ophthalmic, central nervous system, hearing, surgical interventions and development are also reported. No patient discontinued treatment due to an adverse event and all that were treatment-emergent resolved. Conclusions: The prescribed dosage of 1 mg/kg IV weekly with galsulfase ERT is shown to be safe and effective in slowing and/or improving certain aspects of the disease, although patients should be closely monitored for complications associated with the natural history of the disease, especially cardiac valve involvement and spinal cord compression. A long-term follow-up investigation of this group of children will provide further information on the benefits of early treatment as well as disease progression and treatment efficacy and safety in this young patient population.-
dc.description.sponsorshipBioMarin Pharmaceutical Inc.-
dc.relation.ispartofMolecular Genetics and Metabolism-
dc.subjectMucopolysaccharidosis VI-
dc.subjectMPS VI-
dc.subjectLysosomal storage disorder-
dc.subjectEnzyme replacement therapy-
dc.subject.othermucopolysaccharidosis type-vi-
dc.subject.othern-acetylgalactosamine 4-sulfatase-
dc.subject.otherhuman arylsulfatase-b-
dc.titleEnzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI-
dc.subject.wosBiochemistry & Molecular Biology-
dc.subject.wosGenetics & Heredity-
dc.subject.wosMedicine, Research & Experimental-
dc.type.categoryoriginal article-
dc.type.versionpublishedVersion-, Dafne D. G.:Fiocruz MS, Inst Nacl Saude Mulher Crianca & Adolescente Fern, Ctr Genet Med, BR-22250020 Rio De Janeiro, RJ, Brazil-, Tatiana S. P. C.:Fiocruz MS, Inst Nacl Saude Mulher Crianca & Adolescente Fern, Ctr Genet Med, BR-22250020 Rio De Janeiro, RJ, Brazil-, Angelina:Univ Fed Bahia, Serv Genet Med, Salvador, BA, Brazil-, Erlane M.:Hosp Albert Sabin, Fortaleza, Ceara, Brazil-, Liane R.:Univ Fed Mato Grosso do Sul, Fac Med, Campo Grande, MS USA-, Durval B.:Univ Fed Mato Grosso do Sul, Fac Med, Campo Grande, MS USA-, Ana Carolina de:Univ Sao Paulo, Inst Crianca, Sao Paulo, Brazil-, Marcelo:Hosp Barao de Lucena, Recife, PE, Brazil-, Mara A. D.:Univ Fed Parana, Hosp Clin, BR-80060000 Curitiba, Parana, Brazil-, Maria Ione F.:Ctr Reabilitacao Infantil, Natal, RN, Brazil-, Francisca C.:Hosp Univ Maranhao, Sao Luis, MA, Brazil-, Ana Maria:Univ Fed Sao Paulo, Ctr Referencia Erros Inatos Metab, Sao Paulo, SP, Brazil-, Carolina S.:Univ Fed Sao Paulo, Ctr Referencia Erros Inatos Metab, Sao Paulo, SP, Brazil- NETO, Jordao:Hosp Sao Paulo, Enzyme Replacement Therapy Serv, Hosp & Maternidade Celso Pierro, Sao Paulo, Brazil-, Gervina Brady Moreira:Univ Fed Rio Grande do Norte, HOSPED, Hosp Pediat Prof Heriberto Ferreira Bezerra, Natal, RN, Brazil- JR., Laercio:Univ Fed Bahia, Serv Genet Med, Salvador, BA, Brazil-, Carlos A. B. da:Univ Fortaleza, Fortaleza, Ceara, Brazil; Univ Fed Rio Grande do Norte, BR-59072970 Natal, RN, Brazil-, Renata C. F.:Univ Fed Triangulo Mineiro, Uberaba, MG, Brazil-, Bethania F. R.:Hosp Clin Acre, Rio Branco, AC, Brazil-, Maria do Carmo S.:Univ Fed Espirito Santo, HUCAM, Vitoria, ES, Brazil- JR., Juan C.:Fiocruz MS, Inst Nacl Saude Mulher Crianca & Adolescente Fern, Ctr Genet Med, BR-22250020 Rio De Janeiro, RJ, Brazil-
hcfmusp.publisher.citySAN DIEGO-
hcfmusp.relation.referenceAuclair D, 2003, MOL GENET METAB, V78, P163, DOI 10.1016/S1096-7192(03)00007-6-
hcfmusp.relation.referenceAzevedo ACMM, 2004, CLIN GENET, V66, P208, DOI 10.1111/j.1399-0004.2004.00277.x-
hcfmusp.relation.referenceBraunlin EA, 2006, AM J CARDIOL, V98, P416, DOI 10.1016/j.amjcard.2006.02.047-
hcfmusp.relation.referenceDecker C., 2010, J PEDIAT REHABIL MED, V3, P89-
hcfmusp.relation.referenceFurujo M, 2011, MOL GENET METAB, V104, P597, DOI 10.1016/j.ymgme.2011.08.029-
hcfmusp.relation.referenceGallegos-Arreola MP, 2000, ARCH MED RES, V31, P505, DOI 10.1016/S0188-4409(00)00104-1-
hcfmusp.relation.referenceGiugliani R, 2012, MOL GENET METAB, V105, pS31, DOI 10.1016/j.ymgme.2011.11.064-
hcfmusp.relation.referenceGiugliani R, 2007, PEDIATRICS, V120, P405, DOI 10.1542/peds.2006-2184-
hcfmusp.relation.referenceHarmatz P, 2005, PEDIATRICS, V115, pE681, DOI 10.1542/peds.2004-1023-
hcfmusp.relation.referenceHarmatz P, 2006, J PEDIATR, V148, P533, DOI 10.1016/j.jpeds.2005.12.014-
hcfmusp.relation.referenceHarmatz P, 2004, J PEDIATR, V144, P574, DOI 10.1016/j.jpeds.2004.03.018-
hcfmusp.relation.referenceHorovitz DDG, 2011, MOL GENET METAB, V104, P295, DOI 10.1016/j.ymgme.2011.07.019-
hcfmusp.relation.referenceKarageorgos L, 2007, HUM MUTAT, V28, P897, DOI 10.1002/humu.20534-
hcfmusp.relation.referenceKim KH, 2008, PEDIATRICS, V121, pE714, DOI 10.1542/peds.2007-0665-
hcfmusp.relation.referenceMcGill JJ, 2010, CLIN GENET, V77, P492, DOI 10.1111/j.1399-0004.2009.01324.x-
hcfmusp.relation.referenceMut M, 2005, CLIN NEUROL NEUROSUR, V107, P230, DOI 10.1016/j.clineuro.2004.05.003-
hcfmusp.relation.referenceNeufeld EF, 2001, METABOLIC MOL BASES, V3, P3421-
hcfmusp.relation.referenceTeles E., 2007, J INHERIT METAB D S1, V30, P1-
hcfmusp.relation.referenceValayannopoulos V, 2010, ORPHANET J RARE DIS, V5, DOI 10.1186/1750-1172-5-5-
hcfmusp.relation.referenceWraith J. E., 2007, P447, DOI 10.1007/978-0-387-70909-3_28-
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Artigos e Materiais de Revistas Científicas - HC/ICr
Instituto da Criança - HC/ICr

Artigos e Materiais de Revistas Científicas - LIM/36
LIM/36 - Laboratório de Pediatria Clínica

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