| 1 |
30832705 | Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study. | 2019 Mar 4 |
1 |
| 2 |
28499810 | Prevalence of late-onset pompe disease in Portuguese patients with diaphragmatic paralysis - DIPPER study. | 2017 Jul - Aug |
2 |
| 3 |
28894550 | Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology. | 2017 Jul |
2 |
| 4 |
25783438 | LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. | 2016 Jan |
1 |
| 5 |
27170567 | Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. | 2016 Jul 19 |
1 |
| 6 |
27666774 | The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study. | 2016 Nov |
1 |
| 7 |
26575883 | [Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II]. | 2015 Nov |
1 |
| 8 |
20033296 | Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. | 2010 Feb |
1 |
| 9 |
20441705 | [Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity]. | 2010 Jan |
5 |
| 10 |
19533645 | Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. | 2009 Jul |
2 |
| 11 |
18176891 | Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity. | 2007 |
4 |
| 12 |
11393723 | Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency. | 2001 May 5 |
1 |