Repository logo
 
Publication

Screening for Pompe disease in a Portuguese high risk population

2017Journal article Restricted access
Simple item page
dc.contributor.authorAlmeida, V
dc.contributor.authorConceição, I
dc.contributor.authorFineza, I
dc.contributor.authorCoelho, T
dc.contributor.authorSilveira, F
dc.contributor.authorSantos, M
dc.contributor.authorHerrero Valverde, A
dc.contributor.authorGeraldo, A
dc.contributor.authorMaré, R
dc.contributor.authorAguiar, TC
dc.contributor.authorMendonça, C
dc.contributor.authorMartins, J
dc.contributor.authorMedeiros, L
dc.contributor.authorBarroso, C
dc.contributor.authorVieira, JP
dc.contributor.authorMoreno, T
dc.contributor.authorNegrão, L
dc.contributor.authorDias, M
dc.contributor.authorLacerda, L
dc.contributor.authorEvangelista, T
dc.date.accessioned2017-06-07T14:22:32Z
dc.date.available2017-06-07T14:22:32Z
dc.date.issued2017
dc.description.abstractPompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNeuromuscul Disord. 2017 Mar 29. pii: S0960-8966(16)31014-8. [Epub ahead of print]pt_PT
dc.identifier.doi10.1016/j.nmd.2017.03.010pt_PT
dc.identifier.issn1873-2364
dc.identifier.urihttp://hdl.handle.net/10400.10/1867
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherPergamon Presspt_PT
dc.subjectLimb-girdle muscular dystrophiespt_PT
dc.subjectMetabolic diseasespt_PT
dc.subjectPortugalpt_PT
dc.subjectPompe diseasept_PT
dc.titleScreening for Pompe disease in a Portuguese high risk populationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceOxfordpt_PT
oaire.citation.titleNeuromuscular Disorderspt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
Neuromuscular Disorders May 2017.pdf
Size:
314.77 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

NEU - Artigos publicados em revistas não indexadas