Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

dc.citation.issue2
dc.citation.volume74
dc.contributor.authorLlerena Junior, Juan Clinton
dc.contributor.authorNascimento, Osvaldo J. M.
dc.contributor.authorOliveira, Acary Souza B. [UNIFESP]
dc.contributor.authorDourado Junior, Mario Emilio T.
dc.contributor.authorMarrone, Carlo D.
dc.contributor.authorSiqueira, Heloise Helena
dc.contributor.authorSobreira, Claudia F. R.
dc.contributor.authorDias-Tosta, Elza
dc.contributor.authorWerneck, Lineu Cesar
dc.coverageSao Paulo Sp
dc.date.accessioned2020-08-21T17:00:27Z
dc.date.available2020-08-21T17:00:27Z
dc.date.issued2016
dc.description.abstractPompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme (R)). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L'Hotel Port Bay in Sao Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.en
dc.description.affiliationInst Fernandes Figueira FIOCRUZ, Dept Med Genet, Rio De Janeiro, RJ, Brazil
dc.description.affiliationUniv Fed Fluminense, Dept Neurol & NeuroUPC, BR-22031171 Rio De Janeiro, RJ, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Fed Rio Grande do Norte, Dept Neurol, Caiaco, RN, Brazil
dc.description.affiliationClin Marrone, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Cuiaba, Dept Neurol, Cuiaba, MT, Brazil
dc.description.affiliationUniv Sao Paulo, Dept Neurociencias, BR-14049 Ribeirao Preto, SP, Brazil
dc.description.affiliationHosp Base Dist Fed, Serv Neurol, Brasilia, DF, Brazil
dc.description.affiliationUniv Fed Parana, Serv Doencas Neuromusculares, BR-80060000 Curitiba, Parana, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.format.extent166-176
dc.identifierhttp://dx.doi.org/10.1590/0004-282X20150194
dc.identifier.citationArquivos De Neuro-Psiquiatria. Sao Paulo Sp, v. 74, n. 2, p. 166-176, 2016.
dc.identifier.doi10.1590/0004-282X20150194
dc.identifier.fileS0004-282X2016000200016-en.pdf
dc.identifier.issn0004-282X
dc.identifier.scieloS0004-282X2016000200016
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/58006
dc.identifier.wosWOS:000372286900017
dc.language.isoeng
dc.publisherAssoc Arquivos Neuro- Psiquiatria
dc.relation.ispartofArquivos De Neuro-Psiquiatria
dc.rightsAcesso aberto
dc.subjectPompe diseaseen
dc.subjectglycogen storage disease type IIen
dc.subjectacid alpha-glucosidaseen
dc.subjectmuscular weaknessen
dc.subjectdyspneaen
dc.subjectGAA geneen
dc.subjectrhGAAen
dc.titleGuidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe diseaseen
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