Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.
about
Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panelIdiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry diseaseGenetic screening of Fabry patients with EcoTILLING and HRM technology.A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case reportCryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA geneIncreased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.No Fabry Disease in Patients Presenting with Isolated Small Fiber NeuropathyNewborn screening for lysosomal storage disorders in hungary.Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.Fabry disease: a rare cause of neuropathic pain.Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.Small fiber neuropathy: Getting bigger!Genetics of ischaemic stroke.Fabry disease in children: a federal screening programme in Russia.Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.Causes of neuropathy in patients referred as "Idiopathic neuropathy".
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P2860
Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.
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Frequency of Fabry disease in ...... nown aetiology: a pilot study.
@en
Frequency of Fabry disease in ...... nown aetiology: a pilot study.
@nl
type
label
Frequency of Fabry disease in ...... nown aetiology: a pilot study.
@en
Frequency of Fabry disease in ...... nown aetiology: a pilot study.
@nl
prefLabel
Frequency of Fabry disease in ...... nown aetiology: a pilot study.
@en
Frequency of Fabry disease in ...... nown aetiology: a pilot study.
@nl
P2093
P2860
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Frequency of Fabry disease in ...... nown aetiology: a pilot study.
@en
P2093
C Tanislav
T Böttcher
P2860
P304
P356
10.1111/J.1468-1331.2010.03227.X
P577
2010-09-23T00:00:00Z