Associated Papers
Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Stiles AR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
A foundational atlas of autism protein interactions reveals molecular convergence.
Wang B et al.
Biorxiv : the Preprint Server for Biology, 2024
Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.
de Haan A et al.
Clinical Kidney Journal, 2023
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 2020
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 2018
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.
van der Tol L et al.
Jimd Reports, 2016
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
Smid BE et al.
Journal of Medical Genetics, 2015
Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.
Sirrs S et al.
Molecular Genetics and Metabolism, 2010
Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease.
Silva CAB et al.
Molecular Genetics and Metabolism, 0