Associated Papers
Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.
Dave U et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2025
Decreased trabecular bone score in patients affected by Fabry disease.
Varaldo E et al.
Journal of Endocrinological Investigation, 2025
Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.
Germain DP et al.
Biomedicines, 2024
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
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP et al.
The New England Journal of Medicine, 2016
Taming molecular flexibility to tackle rare diseases.
Cubellis MV et al.
Biochimie, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Germain DP et al.
Journal of Medical Genetics, 2015
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP et al.
Biochemical and Biophysical Research Communications, 1999
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
Davies J et al.
Human Molecular Genetics, 1994
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM et al.
Human Mutation, 1994