Cases of Fabry Disease in Which Pathogenic Variants Are Not Detected in Parent-Child Pairs.

Autor: Akeho N; Department of Nephrology, Izumikawa Hospital, Minamishimabara, JPN.; Department of Nephrology, Nagasaki University Hospital, Nagasaki, JPN., Muta K; Department of Nephrology, Nagasaki University Hospital, Nagasaki, JPN., Torigoe K; Department of Nephrology, Nagasaki University Hospital, Nagasaki, JPN., Kitamura M; Department of Nephrology, Nagasaki University Hospital, Nagasaki, JPN., Sawada T; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, JPN.; Center for Clinical Genetics, Kumamoto University Hospital, Kumamoto, JPN., Nakamura K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, JPN., Mukae H; Department of Respiratory Medicine, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN., Nishino T; Department of Nephrology, Nagasaki University Hospital, Nagasaki, JPN.

Publikováno v: Cureus [Cureus] 2024 Jul 09; Vol. 16 (7), pp. e64127. Date of Electronic Publication: 2024 Jul 09 (Print Publication: 2024).