Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT
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Pain management strategies for neuropathic pain in Fabry disease--a systematic reviewThe implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceThe alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-upAlpha-Galactosidase A p.A143T, a non-Fabry disease-causing variantIn Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.Fabry disease in infancy and early childhood: a systematic literature review.Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.Newborn screening for Fabry disease in the north-west of Spain.Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene.Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.
P2860
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P2860
Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Questioning the Pathogenic Rol ...... for Screening Studies and ERT
@ast
Questioning the Pathogenic Rol ...... for Screening Studies and ERT
@en
type
label
Questioning the Pathogenic Rol ...... for Screening Studies and ERT
@ast
Questioning the Pathogenic Rol ...... for Screening Studies and ERT
@en
prefLabel
Questioning the Pathogenic Rol ...... for Screening Studies and ERT
@ast
Questioning the Pathogenic Rol ...... for Screening Studies and ERT
@en
P2093
P2860
P356
P1476
Questioning the Pathogenic Rol ...... for Screening Studies and ERT
@en
P2093
G De Paepe
G De Schoenmakere
J De Backer
R Vanholder
P2860
P304
P356
10.1007/8904_2012_167
P577
2012-07-29T00:00:00Z