https://scholars.lib.ntu.edu.tw/handle/123456789/525874
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | YIN-HSIU CHIEN | en_US |
dc.contributor.author | Bodamer O.A. | en_US |
dc.contributor.author | Chiang S.-C. | en_US |
dc.contributor.author | Mascher H. | en_US |
dc.contributor.author | Hung C. | en_US |
dc.contributor.author | WUH-LIANG HWU | en_US |
dc.date.accessioned | 2020-12-16T02:25:28Z | - |
dc.date.available | 2020-12-16T02:25:28Z | - |
dc.date.issued | 2013 | - |
dc.identifier.issn | 0141-8955 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84884355929&doi=10.1007%2fs10545-012-9547-1&partnerID=40&md5=24200ca3d38f0a9fd8ecbf8d686d33b7 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/525874 | - |
dc.description.abstract | Lyso-globotriaosylsphingosine (lyso-Gb3) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso-Gb3 is elevated in patients with later-onset Fabry disease. Thus, we measured lyso-Gb3 levels from dried blood spots (DBS) from male newborns with the Fabry disease later-onset phenotype, IVS4+919G>A mutation, and their family members. The lyso-Gb3 levels were below the detection limit in normal control newborns and were slightly higher in adults. In males of all ages with the IVS4+919G>A mutation, lyso-Gb3 levels were elevated and were higher than in age-matched controls. The elevation of lyso-Gb3 levels in males with the IVS4+919G>A mutation was only slightly elevated compared with patients with the classical Fabry phenotype. The measurement of lyso-Gb3 levels is useful in the diagnosis of Fabry disease, including the later-onset phenotype. The DBS lyso-Gb3 level was not elevated in IVS4+919G>A heterozygotes, and is not useful for their diagnosis. Since lyso-Gb3 levels are elevated from birth in Fabry disease males, "an elevated lyso-Gb3 level" may be of little values for deciding when to begin enzyme replacement therapy. ? 2012 SSIEM and Springer Science+Business Media Dordrecht. | - |
dc.relation.ispartof | Journal of Inherited Metabolic Disease | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | lyso globotriaosylsphingosine; sphingosine derivative; unclassified drug; adolescent; adult; age distribution; aged; article; child; controlled study; dried blood spot testing; enzyme activity; enzyme replacement; Fabry disease; female; gene; gene mutation; gene sequence; genetic counseling; GLA gene; heterozygosity; homozygosity; human; infant; limit of detection; limit of quantitation; major clinical study; male; newborn; newborn screening; phenotype; pilot study; preschool child; school child; sex difference; Adolescent; Adult; Aged; Aged, 80 and over; Biological Markers; Child; Child, Preschool; Fabry Disease; Female; Glycolipids; Heterozygote; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutation; Phenotype; Pilot Projects; Sphingolipids; Young Adult | - |
dc.title | Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1007/s10545-012-9547-1 | - |
dc.identifier.pmid | 23109060 | - |
dc.identifier.scopus | 2-s2.0-84884355929 | - |
dc.relation.pages | 881-885 | - |
dc.relation.journalvolume | 36 | - |
dc.relation.journalissue | 5 | - |
item.cerifentitytype | Publications | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.grantfulltext | none | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.orcid | 0000-0001-8802-5728 | - |
crisitem.author.orcid | 0000-0001-6690-4879 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 醫學系 |
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