Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
about
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsFabry disease due to D313Y and novel GLA mutations.The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene.Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.Fabry disease in the Spanish population: observational study with detection of 77 patients.Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types
P2860
Q33866320-C5BE5410-CB2F-473B-ABD1-010195C2440EQ36213022-3690C954-2C89-4897-8A09-983BA3BF570EQ42376825-2B692AB4-2113-4521-BB79-D03C5A340B9AQ48255162-88C40B75-912F-4769-B8D4-CA099F38BA04Q49977306-F47839ED-6D8E-4F1E-8F89-320320CDE366Q52327737-CA629591-4A64-40A8-A0D2-0D0B1B06F5ECQ55197229-66CA0A20-C107-477C-9AF3-8CD29CD1AEDFQ58794894-0DD4AE32-FB93-407C-974A-BEC6AB9C281F
P2860
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
@en
type
label
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
@en
prefLabel
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
@en
P2093
P2860
P1476
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
@en
P2093
Christine Kurschat
Christoph Wanner
Daniela Blaschke
Frank Weidemann
Jörg Stypmann
Malte Lenders
Sima Canaan-Kühl
Stefan-Martin Brand
Stefanie Reiermann
P2860
P2888
P356
10.1186/S13023-016-0441-Z
P577
2016-05-04T00:00:00Z
P6179
1005021701