Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures.
10.3343/alm.2016.36.2.177
- Author:
John Hoon RIM
1
;
Minyoul BAIK
;
Sun Och YOON
;
Kyoung HEO
;
Jaewoo SONG
Author Information
1. Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. labdx@yuhs.ac
- Publication Type:Brief Communication ; Case Reports ; Letter
- MeSH:
Adult;
Anticonvulsants/therapeutic use;
Bone Marrow/*pathology;
Epilepsies, Myoclonic/complications/*diagnosis/drug therapy;
Female;
Gaucher Disease/complications/*diagnosis/drug therapy;
Glucosylceramidase/genetics/therapeutic use;
Humans;
Phenotype;
Point Mutation;
Recurrence
- From:Annals of Laboratory Medicine
2016;36(2):177-179
- CountryRepublic of Korea
- Language:English
-
Abstract:
No abstract available.