Matches in SemOpenAlex for { <https://semopenalex.org/work/W52179660> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W52179660 abstract "A male patient presented with oligosymptomatic Fabry disease (end stage renal failure and non-obstructive cardiomyopathy) at around 30 years of age. His leukocyte alpha-galactosidase activity (alpha-gal) was 2.6% of controls. A 50-year-old sister had similar cardiac symptoms and her asymptomatic heterozygous daughter (33 years) had normal enzyme activity. All three patients carried a novel, 6bp insertion on exon 7 of the AGAL gene. The majority of male Fabry patients carrying mutations in exon 7 have residual alpha-gal below 1% and suffer from neuropathic pain. Comparable oligosymptomatic phenotypes in Caucasian patients carry a common mutation on exon 6 (R301Q) and have a significantly later onset. The course of the disease is likely to be altered by recombinant enzyme therapy in the future. Therefore, a thorough documentation of phenotypes, residual activities and underlying genotypes is of current interest." @default.
- W52179660 created "2016-06-24" @default.
- W52179660 creator A5022002223 @default.
- W52179660 creator A5029254853 @default.
- W52179660 creator A5050211671 @default.
- W52179660 creator A5068694836 @default.
- W52179660 creator A5070272109 @default.
- W52179660 date "2003-02-01" @default.
- W52179660 modified "2023-09-27" @default.
- W52179660 title "A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease" @default.
- W52179660 cites W1480178912 @default.
- W52179660 cites W1527133681 @default.
- W52179660 cites W2275512025 @default.
- W52179660 doi "https://doi.org/10.1023/a:1022833332162" @default.
- W52179660 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12705499" @default.
- W52179660 hasPublicationYear "2003" @default.
- W52179660 type Work @default.
- W52179660 sameAs 52179660 @default.
- W52179660 citedByCount "3" @default.
- W52179660 crossrefType "journal-article" @default.
- W52179660 hasAuthorship W52179660A5022002223 @default.
- W52179660 hasAuthorship W52179660A5029254853 @default.
- W52179660 hasAuthorship W52179660A5050211671 @default.
- W52179660 hasAuthorship W52179660A5068694836 @default.
- W52179660 hasAuthorship W52179660A5070272109 @default.
- W52179660 hasConcept C104317684 @default.
- W52179660 hasConcept C126322002 @default.
- W52179660 hasConcept C127716648 @default.
- W52179660 hasConcept C134018914 @default.
- W52179660 hasConcept C2776788019 @default.
- W52179660 hasConcept C2777404818 @default.
- W52179660 hasConcept C2777910003 @default.
- W52179660 hasConcept C2778198053 @default.
- W52179660 hasConcept C2778797674 @default.
- W52179660 hasConcept C2779033419 @default.
- W52179660 hasConcept C2779134260 @default.
- W52179660 hasConcept C2779969927 @default.
- W52179660 hasConcept C36823959 @default.
- W52179660 hasConcept C501734568 @default.
- W52179660 hasConcept C54355233 @default.
- W52179660 hasConcept C71924100 @default.
- W52179660 hasConcept C78458016 @default.
- W52179660 hasConcept C86803240 @default.
- W52179660 hasConcept C90924648 @default.
- W52179660 hasConceptScore W52179660C104317684 @default.
- W52179660 hasConceptScore W52179660C126322002 @default.
- W52179660 hasConceptScore W52179660C127716648 @default.
- W52179660 hasConceptScore W52179660C134018914 @default.
- W52179660 hasConceptScore W52179660C2776788019 @default.
- W52179660 hasConceptScore W52179660C2777404818 @default.
- W52179660 hasConceptScore W52179660C2777910003 @default.
- W52179660 hasConceptScore W52179660C2778198053 @default.
- W52179660 hasConceptScore W52179660C2778797674 @default.
- W52179660 hasConceptScore W52179660C2779033419 @default.
- W52179660 hasConceptScore W52179660C2779134260 @default.
- W52179660 hasConceptScore W52179660C2779969927 @default.
- W52179660 hasConceptScore W52179660C36823959 @default.
- W52179660 hasConceptScore W52179660C501734568 @default.
- W52179660 hasConceptScore W52179660C54355233 @default.
- W52179660 hasConceptScore W52179660C71924100 @default.
- W52179660 hasConceptScore W52179660C78458016 @default.
- W52179660 hasConceptScore W52179660C86803240 @default.
- W52179660 hasConceptScore W52179660C90924648 @default.
- W52179660 hasLocation W521796601 @default.
- W52179660 hasLocation W521796602 @default.
- W52179660 hasOpenAccess W52179660 @default.
- W52179660 hasPrimaryLocation W521796601 @default.
- W52179660 hasRelatedWork W1516038921 @default.
- W52179660 hasRelatedWork W2030221466 @default.
- W52179660 hasRelatedWork W2043774580 @default.
- W52179660 hasRelatedWork W2088699243 @default.
- W52179660 hasRelatedWork W2139927163 @default.
- W52179660 hasRelatedWork W2333360387 @default.
- W52179660 hasRelatedWork W2964921203 @default.
- W52179660 hasRelatedWork W3152508416 @default.
- W52179660 hasRelatedWork W3204238661 @default.
- W52179660 hasRelatedWork W52179660 @default.
- W52179660 isParatext "false" @default.
- W52179660 isRetracted "false" @default.
- W52179660 magId "52179660" @default.
- W52179660 workType "article" @default.