The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype...
The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson–Fabry Disease: A Clinical and Molecular Study
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Anderson–Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by a functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect of this lysosomal enzyme, which is caused by variants in the GLA gene, leads to the accumulation of glycosphingolipids, mainly globotriaosylceramide in the lysosomes of different c...
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Full title
The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson–Fabry Disease: A Clinical and Molecular Study
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11764866
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11764866
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms26020470
