Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMMC6.xlsx › SupplementalTableS5
Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
Dai X et al.
Orphanet Journal of Rare Diseases, 2022
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders KA et al.
International Journal of Neonatal Screening, 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
30497360 (PubMed )
Supplement: 12859_2018_2416_MOESM1_ESM.xlsx › ST1
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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Non-Classic
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
Riera C et al.
Proteins, 2015
Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine.
Rombach SM et al.
Hypertension (dallas, Tex. : 1979), 2012
Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease.
Fervenza FC et al.
Biologics : Targets & Therapy, 2008
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
Rosenthal D et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2004
A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells.
Shimohata H et al.
Internal Medicine (tokyo, Japan), 0
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