Associated Papers
Successful Management of Pregnancy in a Patient With Fabry Disease Receiving Continuous Enzyme Replacement Therapy: A Case Report and Literature Review.
Kido Y et al.
Cureus, 2025
Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.
Linares D et al.
Molecular Genetics and Metabolism, 2023
Investigation of bone mineral density and the changes by enzyme replacement therapy in patients with Fabry disease.
Nose Y et al.
Molecular Genetics and Metabolism, 2023
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
Rossanti R et al.
Clinical and Experimental Nephrology, 2021
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations.
Nakagawa N et al.
Journal of Human Genetics, 2019
Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.
Hossain MA et al.
Molecular Genetics and Metabolism Reports, 2019
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.
Iwafuchi Y et al.
Cen Case Reports, 2017
Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.
Millar DS et al.
Human Genetics, 2000
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989
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