Associated Papers
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
Fabry Disease Nephropathy: Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance.
Santostefano M et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2023
Clinical significance of small nerve fiber involvement in the early diagnosis and treatment of patients with Fabry disease.
Kokotis P et al.
Journal of the Neurological Sciences, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
37441486 (PubMed )
Supplement: mmc1.pdf
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
Effraimidis G et al.
Plos One, 2022
Fabry disease due to G171S GLA mutation: An atypical small nerve fiber sparing variant?
Prencipe M et al.
European Journal of Ophthalmology, 2021
Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort.
Effraimidis G et al.
Journal of Medical Genetics, 2021
Fabry disease due to D313Y and novel GLA mutations.
Koulousios K et al.
Bmj Open, 2017
Respiratory impairments in patients suffering from Fabry disease - A cross-sectional study.
Ahmed H et al.
Chronic Respiratory Disease, 0
38334083 (PubMed )
Supplement: sj-pdf-1-crd-10.1177_14799731231221821.pdf
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