| http://purl.uniprot.org/citations/28723748 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28723748 | http://www.w3.org/2000/01/rdf-schema#comment | "Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males. Each diagnosis was based on an enzyme assay and GLA gene mutation analysis.The mean age at presentation was 24 years (range, 5-65 years); however, the diagnoses were delayed by 21 ± 19 years after the onset of symptoms. Those patients with late-onset Fabry disease were diagnosed by family screening or milder symptoms at a later age. Forty different mutations were identified: 20 missense (50%), 10 nonsense (25%), 8 frameshift (20%), and 2 splice site (5%) mutations. Five of them were novel. IVS4+919G>A (c.936+919 G>A) was not detected among the 6505 alleles via newborn screening using dried blood spots. Enzyme replacement therapy (ERT) was performed in all the males and pediatric patients, whereas 75% of the symptomatic females underwent ERT for 4.2 ± 3.6 years.This study described the demographic data, wide clinical spectrum of phenotypes, and GLA mutation spectrum of Fabry disease in Korea. Most of the patients had classical Fabry disease, with a 4 times higher incidence than that of late-onset Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.org/dc/terms/identifier | "doi:10.1097/md.0000000000007387"xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Kim S.M."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Kim S.H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Kim K.H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Lee D.H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Kim D.S."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Park S.H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Kim W.S."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Hong Y.H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Kim Y.M."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Lee B.H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Choi J.H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Seo J.S."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Lim H.H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Kim G.H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Yoo H.W."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Sohn Y.B."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Kim C.D."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Kook H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Ko J.M."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Heo S.H."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/author | "Hong G.R."xsd:string |
| http://purl.uniprot.org/citations/28723748 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |