about
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-upQuestioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERTLyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
P2860
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Fabry or not Fabry--a question of ascertainment.
@en
Fabry or not Fabry--a question of ascertainment.
@nl
type
label
Fabry or not Fabry--a question of ascertainment.
@en
Fabry or not Fabry--a question of ascertainment.
@nl
prefLabel
Fabry or not Fabry--a question of ascertainment.
@en
Fabry or not Fabry--a question of ascertainment.
@nl
P2093
P2860
P356
P1476
Fabry or not Fabry--a question of ascertainment.
@en
P2093
Asle Hirth
Camilla Tøndel
Einar Svarstad
Gunnar Houge
Leif Bostad
Oyvind Kaarbøe
P2860
P2888
P356
10.1038/EJHG.2011.87
P577
2011-05-18T00:00:00Z
P5875
P6179
1018838924