Case report: Discovery of a family with a novel variant of Fabry disease following presentation of a female patient with peripheral limb pain

Molecular Genetics and Metabolism 2026

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Authors: Hiroyuki Yamakawa, Satoshi Nakamura, Nana Kushima, Toshiya Sato, Taiga Kobayashi, Kousuke Kimura, Torayuki Okuyama, Hiromasa Takaishi, Masaki Ieda
DOI: 10.1016/j.ymgme.2025.109679
Cited by: 0

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders

Publication details

Journal / source
Molecular Genetics and Metabolism
Volume
147
Issue
2
Pages
109679–109679
Publication date
1 February 2026
Language
EN