Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsIdentification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease.Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells.Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.Is it Fabry disease?The Impact of Fabry Disease on Reproductive Fitness.Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C diseaseMetabolic progression to clinical phenotype in classic Fabry disease.Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease.Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study.Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease.Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease.Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types
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P2860
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
@en
type
label
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
@en
prefLabel
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
@en
P2093
P2860
P1476
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
@en
P2093
Ben J H M Poorthuis
Bouwien E Smid
Carla E M Hollak
Gabor E Linthorst
Linda van der Tol
Marieke Biegstraaten
P2860
P304
P356
10.1136/JMEDGENET-2014-102872
P407
P577
2015-01-16T00:00:00Z