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Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures

Authors
 John Hoon Rim  ;  Minyoul Baik  ;  Sun Och Yoon  ;  Kyoung Heo  ;  Jaewoo Song 
Citation
 Annals of Laboratory Medicine, Vol.36(2) : 177-179, 2016 
Journal Title
 Annals of Laboratory Medicine 
ISSN
 2234-3806 
Issue Date
2016
MeSH
Adult ; Anticonvulsants/therapeutic use ; Bone Marrow/pathology* ; Epilepsies, Myoclonic/complications ; Epilepsies, Myoclonic/diagnosis* ; Epilepsies, Myoclonic/drug therapy ; Female ; Gaucher Disease/complications ; Gaucher Disease/diagnosis* ; Gaucher Disease/drug therapy ; Glucosylceramidase/genetics ; Glucosylceramidase/therapeutic use ; Humans ; Phenotype ; Point Mutation ; Recurrence
Files in This Item:
T201604433.pdf Download
DOI
10.3343/alm.2016.36.2.177
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실)
Yonsei Authors
송재우(Song, Jae Woo)
윤선옥(Yoon, Sun Och) ORCID logo https://orcid.org/0000-0002-5115-1402
임정훈(Rim, John Hoon) ORCID logo https://orcid.org/0000-0001-6825-8479
허경(Heo, Kyoung)
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/152489
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