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Neuromuscular Disorders
Article . 2018 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
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A database for screening and registering late onset Pompe disease in Turkey

Authors: Gokyigit M.C.; Ekmekci H.; Durmus H.; Karlı N.; Koseoglu E.; Aysal F.; Kotan D.; +45 Authors

A database for screening and registering late onset Pompe disease in Turkey

Abstract

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.

Country
Turkey
Keywords

glycogen storage disease type 2, enzyme assay, Databases, Factual, Turkey, Turkey (republic), data base, Prevalence, creatine kinase blood level, Mass Screening, Registries, Age of Onset, Creatine Kinase, Glycogen Storage Disease Type II, adult, Limb Girdle Muscle Weakness, 600, genetic screening, Age of Onset; Creatine Kinase/blood; Databases, Factual; Glycogen Storage Disease Type II/blood/diagnosis/*epidemiology; Humans; Mass Screening; Prevalence; Registries; Turkey/epidemiology, aged, female, priority journal, LOPD, histopathology, disease registry, myopathy, mutational analysis, Registry, Acid Alpha Glucosidase, 610, electrodiagnosis, Article, enzyme blood level, male, respiratory distress, Lopd, Humans, controlled study, human, Acid alpha glucosidase, muscle weakness, creatine kinase, screening, glucan 1,4 alpha glucosidase, major clinical study, human tissue, late onset disorder, Limb girdle muscle weakness, multicenter study, Neurosciences & Neurology

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selected citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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