1.Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures.
John Hoon RIM ; Minyoul BAIK ; Sun Och YOON ; Kyoung HEO ; Jaewoo SONG
Annals of Laboratory Medicine 2016;36(2):177-179
No abstract available.
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

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