PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 30832705-4 2019 We hypothesize that assessing the GAA activity in suspected patients by a dried blood spot (DBS) may help the diagnosis of LOPD in the pneumological setting. dbs 92-95 alpha glucosidase Homo sapiens 34-37 28894550-6 2017 Acid alpha-glucosidase (GAA) activity was measured separately on DBS by fluorometric method. dbs 65-68 alpha glucosidase Homo sapiens 24-27 28894550-12 2017 CONCLUSIONS: Results from the LOPED study suggest that GAA activity requires accurate screening by DBS in all patients referred for hyperCKemia and/or LGMW. dbs 99-102 alpha glucosidase Homo sapiens 55-58 28499810-6 2017 All patients were evaluated for GAA activity with DBS (dried blood test) or serum quantification and positive results confirmed by serum quantification and sequencing. dbs 50-53 alpha glucosidase Homo sapiens 32-35 28499810-9 2017 CONCLUSION: We conclude that DBS test for GAA activity should be recommended for all patients with diaphragmatic paralysis which, despite looking at all the most common causes, remains of unknown etiology; this would improve both the timing and accuracy of diagnosis for Pompe disease in this patient population. dbs 29-32 alpha glucosidase Homo sapiens 42-45 25783438-11 2016 CONCLUSIONS: LOPED study suggests that GAA activity should be accurately screened by DBS in all patients referring for isolated hyperCKaemia and/or LGMW. dbs 85-88 alpha glucosidase Homo sapiens 39-42 27666774-10 2016 In patients with a positive DBS test and negative genetic analysis, tissue assay of GAA should be considered. dbs 28-31 alpha glucosidase Homo sapiens 84-87 27170567-5 2016 RESULTS: Of 3,076 patients with DBS samples, 232 patients (7.6%) showed low GAA enzyme activity. dbs 32-35 alpha glucosidase Homo sapiens 76-79 11393723-1 2001 A new automated method for the assay of guanidinoacetic acid (GAA) in dried blood spot (DBS) on filter paper is reported. dbs 88-91 alpha glucosidase Homo sapiens 62-65 26575883-11 2015 The detection of GAA activity in peripheral blood by DBS and GAA gene detection are effective and feasible methods for diagnosis of GSD II. dbs 53-56 alpha glucosidase Homo sapiens 17-20 20033296-12 2010 CONCLUSION: The fluorometric technique for the assessment of GAA activity in DBS provides a reliable diagnosis for all variants of Pompe disease. dbs 77-80 alpha glucosidase Homo sapiens 61-64 20441705-4 2010 METHOD: The assay of GAA activity was performed in dried blood spots (DBS) and mixed leukocytes with acarbose to eliminate isoenzyme interference and to generate the reference range. dbs 70-73 alpha glucosidase Homo sapiens 21-24 20441705-5 2010 GAA activity was assayed in 700 specimens for DBS from normal subjects and 100 specimens for mixed leukocytes from normal subjects to set up reference range. dbs 46-49 alpha glucosidase Homo sapiens 0-3 20441705-8 2010 GAA activity tested by DBS was stable for 28 days between room temperature and -80 degrees C. The reference range of newborns and children-adults in DBS samples was 8.92 - 60.03 pmol/(punch x h) and 8.00 - 37.43 pmol/(punch x h), respectively. dbs 23-26 alpha glucosidase Homo sapiens 0-3 20441705-8 2010 GAA activity tested by DBS was stable for 28 days between room temperature and -80 degrees C. The reference range of newborns and children-adults in DBS samples was 8.92 - 60.03 pmol/(punch x h) and 8.00 - 37.43 pmol/(punch x h), respectively. dbs 149-152 alpha glucosidase Homo sapiens 0-3 20441705-11 2010 CONCLUSION: The determination of GAA activity in DBS is sensitive and time-saving, and is suitable for high throughput analysis and newborn screening for GSD II. dbs 49-52 alpha glucosidase Homo sapiens 33-36 19533645-2 2009 Our clinical laboratory began to offer a fluorometric dried blood spot (DBS)-based GAA activity assay for Pompe disease in 2006 after the FDA approved GAA enzyme replacement therapy in April of that year. dbs 72-75 alpha glucosidase Homo sapiens 83-86 19533645-7 2009 In our experience, the DBS GAA activity assay provides a robust, rapid, and reliable first tier test for screening patients suspected of having Pompe disease. dbs 23-26 alpha glucosidase Homo sapiens 27-30 18176891-5 2007 For each examined patient, the activity of lysosomal GAA (at pH 3.8) was measured fluorometrically in isolated blood leukocytes (L) and dried blood spots (DBS). dbs 155-158 alpha glucosidase Homo sapiens 53-56 18176891-13 2007 All three patients showed reduced GAA activity ratios measured at pH 3.8 with and without acarbose (patient 1 - 0.12 in DBS and 0.07 in L; patient 2 - 0.05 in DBS and 0.07 in L; and patient 3 - 0.12 in DBS and 0.09 in L). dbs 120-123 alpha glucosidase Homo sapiens 34-37 18176891-13 2007 All three patients showed reduced GAA activity ratios measured at pH 3.8 with and without acarbose (patient 1 - 0.12 in DBS and 0.07 in L; patient 2 - 0.05 in DBS and 0.07 in L; and patient 3 - 0.12 in DBS and 0.09 in L). dbs 159-162 alpha glucosidase Homo sapiens 34-37 18176891-13 2007 All three patients showed reduced GAA activity ratios measured at pH 3.8 with and without acarbose (patient 1 - 0.12 in DBS and 0.07 in L; patient 2 - 0.05 in DBS and 0.07 in L; and patient 3 - 0.12 in DBS and 0.09 in L). dbs 159-162 alpha glucosidase Homo sapiens 34-37