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Early diagnosis of Gaucher disease in Korean patients with unexplained splenomegaly: a multicenter observational study

BACKGROUND: Gaucher disease (GD) is an autosomal recessive disorder characterized by excessive accumulation of glucosylceramide in multiple organs. This study was performed to determine the detection rate of GD in a selected patient population with unexplained splenomegaly in Korea. METHODS: This wa...

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Detalles Bibliográficos
Autores principales: Do, Young Rok, Choi, Yunsuk, Heo, Mi Hwa, Kim, Jin Seok, Yoon, Jae-ho, Lee, Je-Hwan, Park, Joon Seong, Sohn, Sang Kyun, Kim, Sung Hyun, Lim, Sungnam, Chung, Joo Seop, Jo, Deog-Yeon, Eom, Hyeon Seok, Kim, Hawk, Jeon, So Yeon, Won, Jong-Ho, Lee, Hee Jeong, Shin, Jung Won, Jang, Jun-Ho, Yoon, Sung-Soo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Hematology; Korean Society of Blood and Marrow Transplantation; Korean Society of Pediatric Hematology-Oncology; Korean Society on Thrombosis and Hemostasis 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9492528/
https://www.ncbi.nlm.nih.gov/pubmed/35880496
http://dx.doi.org/10.5045/br.2022.2022089