Matches in SemOpenAlex for { <https://semopenalex.org/work/W2513398001> ?p ?o ?g. }
Showing items 1 to 73 of
73
with 100 items per page.
- W2513398001 endingPage "S188" @default.
- W2513398001 startingPage "S188" @default.
- W2513398001 abstract "Pompe disease is an inherited metabolic multi-system disorder resulting in glycogen storage in different tissues, caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase. Glycogen storage is often a morphological marker in muscle biopsy of Pompe patients but it could be also present in other tissues. Abnormal cytoplasmic vacuolation of lymphocytes, detectable on routine blood film examination, has been recently proposed as possible screening tool in these patients. We examined blood smear of 16 LOPD patients, aged 14–71 years. The cohort phenotype encompasses 5 patients with presymptomatic hyperckemia and fatigue, and 11 with proximal muscle weakness. We collected also peripheral blood films from 20 healthy controls and from 12 patients affected by other muscle glycogenoses. Blood samples were collected and analyzed by preparation of four blood films: two of them were stained by May-Grunwald/Giemsa (MGG) and the other two by PAS for each sample. The number of vacuolated and PAS-positive lymphocytes, expressed as percentage of 100 lymphocytes examined, was significantly higher in LOPD patients than in healthy controls and patients with other muscle glycogenosis (21% vs. 4% vs. 2%, respectively; p = 0.002). In this group of patients, we have shown that PAS-positive cytoplasmic vacuolation of lymphocytes in peripheral blood films could be considered as a reliable screening tool to support an early diagnosis of Pompe disease." @default.
- W2513398001 created "2016-09-16" @default.
- W2513398001 creator A5021553008 @default.
- W2513398001 creator A5033765784 @default.
- W2513398001 creator A5045333849 @default.
- W2513398001 creator A5047370343 @default.
- W2513398001 creator A5056965884 @default.
- W2513398001 creator A5066272849 @default.
- W2513398001 creator A5086014640 @default.
- W2513398001 creator A5087055629 @default.
- W2513398001 date "2015-10-01" @default.
- W2513398001 modified "2023-09-28" @default.
- W2513398001 title "Blood film examination for vacuolated and PAS-positive lymphocytes as diagnostic screening test for patients with late onset Pompe disease (LOPD)" @default.
- W2513398001 doi "https://doi.org/10.1016/j.nmd.2015.06.020" @default.
- W2513398001 hasPublicationYear "2015" @default.
- W2513398001 type Work @default.
- W2513398001 sameAs 2513398001 @default.
- W2513398001 citedByCount "0" @default.
- W2513398001 crossrefType "journal-article" @default.
- W2513398001 hasAuthorship W2513398001A5021553008 @default.
- W2513398001 hasAuthorship W2513398001A5033765784 @default.
- W2513398001 hasAuthorship W2513398001A5045333849 @default.
- W2513398001 hasAuthorship W2513398001A5047370343 @default.
- W2513398001 hasAuthorship W2513398001A5056965884 @default.
- W2513398001 hasAuthorship W2513398001A5066272849 @default.
- W2513398001 hasAuthorship W2513398001A5086014640 @default.
- W2513398001 hasAuthorship W2513398001A5087055629 @default.
- W2513398001 hasConcept C126322002 @default.
- W2513398001 hasConcept C142724271 @default.
- W2513398001 hasConcept C204232928 @default.
- W2513398001 hasConcept C2775934546 @default.
- W2513398001 hasConcept C2776735236 @default.
- W2513398001 hasConcept C2777499176 @default.
- W2513398001 hasConcept C2779134260 @default.
- W2513398001 hasConcept C2779468605 @default.
- W2513398001 hasConcept C2779969927 @default.
- W2513398001 hasConcept C3017910909 @default.
- W2513398001 hasConcept C71924100 @default.
- W2513398001 hasConcept C75786782 @default.
- W2513398001 hasConcept C90924648 @default.
- W2513398001 hasConceptScore W2513398001C126322002 @default.
- W2513398001 hasConceptScore W2513398001C142724271 @default.
- W2513398001 hasConceptScore W2513398001C204232928 @default.
- W2513398001 hasConceptScore W2513398001C2775934546 @default.
- W2513398001 hasConceptScore W2513398001C2776735236 @default.
- W2513398001 hasConceptScore W2513398001C2777499176 @default.
- W2513398001 hasConceptScore W2513398001C2779134260 @default.
- W2513398001 hasConceptScore W2513398001C2779468605 @default.
- W2513398001 hasConceptScore W2513398001C2779969927 @default.
- W2513398001 hasConceptScore W2513398001C3017910909 @default.
- W2513398001 hasConceptScore W2513398001C71924100 @default.
- W2513398001 hasConceptScore W2513398001C75786782 @default.
- W2513398001 hasConceptScore W2513398001C90924648 @default.
- W2513398001 hasLocation W25133980011 @default.
- W2513398001 hasOpenAccess W2513398001 @default.
- W2513398001 hasPrimaryLocation W25133980011 @default.
- W2513398001 hasRelatedWork W1515052381 @default.
- W2513398001 hasRelatedWork W1971796636 @default.
- W2513398001 hasRelatedWork W1988631157 @default.
- W2513398001 hasRelatedWork W1998763644 @default.
- W2513398001 hasRelatedWork W2044025882 @default.
- W2513398001 hasRelatedWork W2092678405 @default.
- W2513398001 hasRelatedWork W2115074653 @default.
- W2513398001 hasRelatedWork W2125223958 @default.
- W2513398001 hasRelatedWork W2187198709 @default.
- W2513398001 hasRelatedWork W3026232762 @default.
- W2513398001 hasVolume "25" @default.
- W2513398001 isParatext "false" @default.
- W2513398001 isRetracted "false" @default.
- W2513398001 magId "2513398001" @default.
- W2513398001 workType "article" @default.