Matches in SemOpenAlex for { <https://semopenalex.org/work/W2138315889> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W2138315889 abstract "Aim: Gaucher disease is a multisystemic disorder characterized by glucocerebrosidase enzyme deficiency. The aim of this study was to present clinical aspects and diagnostic data of 19 patients (17 type 1, 2 type 3) in our service.Methods: Clinical findings, genetic analysis, laboratory work up, liver and spleen volumes were analyzed for 19 patients.Results: Mean age was 17 years (5-32 years); mean age at diagnosis was 11, 4 years (5-31 years). Most common presenting symptom was splenomegaly (all patients). Most frequent mutation was heterozygous N370S. One patient had severe anemia before the treatment. 16 patients had thrombocytopenia. All patients had high level of chitotriosidase before the treatment (240 times higher than normal value).Conclusion: There is a large variety of clinical signs in Gaucher disease. In our experience a proper investigation of patient followed by further expensive examinations is the cornerstone of diagnostic." @default.
- W2138315889 created "2016-06-24" @default.
- W2138315889 creator A5067101215 @default.
- W2138315889 date "2013-01-01" @default.
- W2138315889 modified "2023-09-23" @default.
- W2138315889 title "Clinical and Diagnostic Findings of 19 Gaucher Patients in Albania" @default.
- W2138315889 cites W1603695485 @default.
- W2138315889 cites W177618465 @default.
- W2138315889 cites W1971217129 @default.
- W2138315889 cites W1982537903 @default.
- W2138315889 cites W1982693023 @default.
- W2138315889 cites W1984007036 @default.
- W2138315889 cites W1992253341 @default.
- W2138315889 cites W1996024096 @default.
- W2138315889 cites W2003111390 @default.
- W2138315889 cites W2007348345 @default.
- W2138315889 cites W2024154771 @default.
- W2138315889 cites W2031705605 @default.
- W2138315889 cites W2033060552 @default.
- W2138315889 cites W2048088579 @default.
- W2138315889 cites W2089244647 @default.
- W2138315889 cites W2097813811 @default.
- W2138315889 cites W2124663723 @default.
- W2138315889 cites W2131279637 @default.
- W2138315889 cites W2135424735 @default.
- W2138315889 cites W2144456776 @default.
- W2138315889 cites W2153222596 @default.
- W2138315889 cites W2322128806 @default.
- W2138315889 cites W2324020074 @default.
- W2138315889 cites W2331044014 @default.
- W2138315889 cites W2395740681 @default.
- W2138315889 cites W2416275673 @default.
- W2138315889 cites W60520694 @default.
- W2138315889 doi "https://doi.org/10.4172/2167-0889.1000122" @default.
- W2138315889 hasPublicationYear "2013" @default.
- W2138315889 type Work @default.
- W2138315889 sameAs 2138315889 @default.
- W2138315889 citedByCount "2" @default.
- W2138315889 countsByYear W21383158892020 @default.
- W2138315889 countsByYear W21383158892022 @default.
- W2138315889 crossrefType "journal-article" @default.
- W2138315889 hasAuthorship W2138315889A5067101215 @default.
- W2138315889 hasBestOaLocation W21383158891 @default.
- W2138315889 hasConcept C142724271 @default.
- W2138315889 hasConcept C177713679 @default.
- W2138315889 hasConcept C187212893 @default.
- W2138315889 hasConcept C71924100 @default.
- W2138315889 hasConceptScore W2138315889C142724271 @default.
- W2138315889 hasConceptScore W2138315889C177713679 @default.
- W2138315889 hasConceptScore W2138315889C187212893 @default.
- W2138315889 hasConceptScore W2138315889C71924100 @default.
- W2138315889 hasIssue "02" @default.
- W2138315889 hasLocation W21383158891 @default.
- W2138315889 hasOpenAccess W2138315889 @default.
- W2138315889 hasPrimaryLocation W21383158891 @default.
- W2138315889 hasRelatedWork W1506200166 @default.
- W2138315889 hasRelatedWork W1995515455 @default.
- W2138315889 hasRelatedWork W2048182022 @default.
- W2138315889 hasRelatedWork W2080531066 @default.
- W2138315889 hasRelatedWork W2604872355 @default.
- W2138315889 hasRelatedWork W2748952813 @default.
- W2138315889 hasRelatedWork W2899084033 @default.
- W2138315889 hasRelatedWork W3031052312 @default.
- W2138315889 hasRelatedWork W3032375762 @default.
- W2138315889 hasRelatedWork W3108674512 @default.
- W2138315889 hasVolume "02" @default.
- W2138315889 isParatext "false" @default.
- W2138315889 isRetracted "false" @default.
- W2138315889 magId "2138315889" @default.
- W2138315889 workType "article" @default.