Screening for late‐onset Pompe disease in Poland
| العنوان: | Screening for late‐onset Pompe disease in Poland |
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| المؤلفون: | Biruta Kierdaszuk, Anna Kostera-Pruszczyk, Miłosz Jastrzębski, Marta Lipowska, Anna Łusakowska, Aleksandra Jastrzębska, Anna Potulska-Chromik, Anna Kamińska |
| المصدر: | Acta Neurologica Scandinavica. 140:239-243 |
| بيانات النشر: | Hindawi Limited, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Adult, Male, myalgia, medicine.medical_specialty, Adolescent, Compound heterozygosity, Frameshift mutation, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Genetic Testing, 030212 general & internal medicine, Child, Aged, Aged, 80 and over, Glycogen Storage Disease Type II, business.industry, Muscle weakness, General Medicine, Enzyme replacement therapy, Middle Aged, Dried blood spot, Muscular Dystrophies, Limb-Girdle, Neurology, Child, Preschool, Mutation, Cohort, Female, Dried Blood Spot Testing, Poland, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery |
| الوصف: | OBJECTIVES We aimed to screen for late-onset Pompe disease using the dried blood spot (DBS) test in a cohort of patients with limb-girdle muscle weakness or persistent hyperCKemia. MATERIALS AND METHODS Patients with limb-girdle muscle weakness, persistently elevated CK, rigid spine syndrome, dyspnoea, myalgia or sibling of the patient diagnosed with LOPD were included in the study. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry and followed by genetic testing when required. Study was conducted between June 2014 and May 2017. RESULTS A total of 337 patients aged 32.2 years (range 2-80) were included in the study. Late-onset Pompe disease was diagnosed in 10 patients (3.0% of tested cohort). All were compound heterozygotes with common c.32-13T>G mutation on one allele and missense or frameshift mutation on the other. Two of the mutations (c.1951delG and c.397T>G) were not reported previously. Seven of the patients started enzyme replacement therapy. CONCLUSIONS DBS test is a reliable method for screening for late-onset Pompe disease. |
| تدمد: | 1600-0404 0001-6314 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a96c46828960b42652f1ea1167996dTest https://doi.org/10.1111/ane.13133Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....f7a96c46828960b42652f1ea1167996d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16000404 00016314 |
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