Matches in SemOpenAlex for { <https://semopenalex.org/work/W2069482502> ?p ?o ?g. }
Showing items 1 to 63 of
63
with 100 items per page.
- W2069482502 abstract "in filter paper, initially for the detection of heparan sulfamidase (MPS IIIA) and beta-galactosidase (GM1-gangliosidosis, MPS IVB, galactosialidosis) deficiencies. We prepared filter paper samples with dried-leukocytes or dried-fibroblast (DLFP, DFFP) from healthy individuals and from patients with confirmed MPS IIIA or GM1 gangliosidosis by direct transfer of cell homogenates to filter paper discs. Heparan sulfaminidase and beta-galactosidase were tested by incubating samples with specific buffers and substrates. For heparan sulfamidase, a clear discrimination was found between normal controls and MPS IIIA patients both in DLFP and DFFP samples. For beta-galactosidase, distinction between normal controls and GM1-gangliosisdosis patients was evidenced only in DLFP samples so far. Although the method still needs further development, we conclude that assays for these two enzymes could be performed in dried-cell homogenates, and could be an useful tool for LSD identification, especially in areas where liquid blood samples usually need to travel several days to reach the reference laboratory." @default.
- W2069482502 created "2016-06-24" @default.
- W2069482502 creator A5036401265 @default.
- W2069482502 creator A5051468151 @default.
- W2069482502 creator A5054062079 @default.
- W2069482502 creator A5060519108 @default.
- W2069482502 creator A5067233793 @default.
- W2069482502 creator A5067872898 @default.
- W2069482502 date "2013-02-01" @default.
- W2069482502 modified "2023-09-27" @default.
- W2069482502 title "Genotyping analysis available for patients after hematopoietic cell transplantation for multiple types of lysosomal diseases" @default.
- W2069482502 doi "https://doi.org/10.1016/j.ymgme.2012.11.058" @default.
- W2069482502 hasPublicationYear "2013" @default.
- W2069482502 type Work @default.
- W2069482502 sameAs 2069482502 @default.
- W2069482502 citedByCount "0" @default.
- W2069482502 crossrefType "journal-article" @default.
- W2069482502 hasAuthorship W2069482502A5036401265 @default.
- W2069482502 hasAuthorship W2069482502A5051468151 @default.
- W2069482502 hasAuthorship W2069482502A5054062079 @default.
- W2069482502 hasAuthorship W2069482502A5060519108 @default.
- W2069482502 hasAuthorship W2069482502A5067233793 @default.
- W2069482502 hasAuthorship W2069482502A5067872898 @default.
- W2069482502 hasConcept C104317684 @default.
- W2069482502 hasConcept C109159458 @default.
- W2069482502 hasConcept C126322002 @default.
- W2069482502 hasConcept C135763542 @default.
- W2069482502 hasConcept C153911025 @default.
- W2069482502 hasConcept C203014093 @default.
- W2069482502 hasConcept C28328180 @default.
- W2069482502 hasConcept C2911091166 @default.
- W2069482502 hasConcept C2993713153 @default.
- W2069482502 hasConcept C31467283 @default.
- W2069482502 hasConcept C55493867 @default.
- W2069482502 hasConcept C71924100 @default.
- W2069482502 hasConcept C86803240 @default.
- W2069482502 hasConcept C95444343 @default.
- W2069482502 hasConceptScore W2069482502C104317684 @default.
- W2069482502 hasConceptScore W2069482502C109159458 @default.
- W2069482502 hasConceptScore W2069482502C126322002 @default.
- W2069482502 hasConceptScore W2069482502C135763542 @default.
- W2069482502 hasConceptScore W2069482502C153911025 @default.
- W2069482502 hasConceptScore W2069482502C203014093 @default.
- W2069482502 hasConceptScore W2069482502C28328180 @default.
- W2069482502 hasConceptScore W2069482502C2911091166 @default.
- W2069482502 hasConceptScore W2069482502C2993713153 @default.
- W2069482502 hasConceptScore W2069482502C31467283 @default.
- W2069482502 hasConceptScore W2069482502C55493867 @default.
- W2069482502 hasConceptScore W2069482502C71924100 @default.
- W2069482502 hasConceptScore W2069482502C86803240 @default.
- W2069482502 hasConceptScore W2069482502C95444343 @default.
- W2069482502 hasLocation W20694825021 @default.
- W2069482502 hasOpenAccess W2069482502 @default.
- W2069482502 hasPrimaryLocation W20694825021 @default.
- W2069482502 hasRelatedWork W1581225119 @default.
- W2069482502 hasRelatedWork W2305262979 @default.
- W2069482502 hasRelatedWork W2323492090 @default.
- W2069482502 hasRelatedWork W2580908817 @default.
- W2069482502 hasRelatedWork W2979593562 @default.
- W2069482502 isParatext "false" @default.
- W2069482502 isRetracted "false" @default.
- W2069482502 magId "2069482502" @default.
- W2069482502 workType "article" @default.