A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
about
Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.High variability of Fabry disease manifestations in an extended Italian family.Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.D313Y mutation in the differential diagnosis of white matter lesions: Experiences from a multiple sclerosis outpatient clinic.Low frequency of Fabry disease in patients with common heart disease.Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.
P2860
Q35763202-F3BCE845-10DE-4B7D-905F-4D532E205BE2Q36819212-0BB12F9A-7724-4C7F-8D99-8448544AF681Q40155905-5C406801-A149-4091-9EEA-6ADF39126208Q42233423-7EDF712F-F7CB-40E7-922F-4C2F3E8476D0Q48824451-E1B2DDB6-E137-445D-BB3E-3543B31C492FQ49941415-1603C92A-46CE-4C8A-BA35-8FB54B50808DQ55379532-E658F089-ACA1-457E-9620-DF81B1429DB3
P2860
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
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2014年學術文章
@zh-hant
name
A family with various symptoma ...... of alpha galactosidase A gene.
@en
A family with various symptoma ...... of alpha galactosidase A gene.
@nl
type
label
A family with various symptoma ...... of alpha galactosidase A gene.
@en
A family with various symptoma ...... of alpha galactosidase A gene.
@nl
prefLabel
A family with various symptoma ...... of alpha galactosidase A gene.
@en
A family with various symptoma ...... of alpha galactosidase A gene.
@nl
P2093
P50
P1476
A family with various symptoma ...... of alpha galactosidase A gene
@en
P2093
Carmela Zizzo
Francesca Corpora
Giovanni Duro
Irene Simonetta
Rosaria Pecoraro
Salvatore Miceli
Vittoriano Della Corte
P356
10.1016/J.CLINBIOCHEM.2014.09.018
P577
2014-10-02T00:00:00Z