Associated Papers
Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy.
Weiner S et al.
Biomedicines, 2025
40564187 (PubMed )
Supplement: biomedicines-13-01468-s001.zip › biomedicines-3648045-supplementary.pdf
MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.
Weiner S et al.
Biomedicines, 2025
40149569 (PubMed )
Supplement: biomedicines-13-00592-s001.zip › Supplementary_Table_S1_T2_FD.pdf
Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease.
Schindehütte M et al.
Brain Communications, 2024
38751382 (PubMed )
Supplement: fcae155_supplementary_data.pdf
Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.
Xiao D et al.
Frontiers in Genetics, 2024
39076170 (PubMed )
Supplement: Table1.DOCX
Central nervous system vasculopathy caused by Fabry disease: a case report.
Kong DZ et al.
Bmc Neurology, 2019
Fabry disease with acute cerebral infarction onset in a young patient.
Zhang YN et al.
Chinese Medical Journal, 2019
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
Branton MH et al.
Medicine, 2002
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2000
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Topaloglu AK et al.
Molecular Medicine (cambridge, Mass.), 1999
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