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
2.Severe myoclonic epilepsy in infants: a report of 4 cases.
Ji-wen WANG ; Ruo-peng SUN ; Xiu-yu SHI ; Qing-hui GUO
Chinese Journal of Pediatrics 2005;43(8):626-627
Anticonvulsants
;
therapeutic use
;
Child
;
Child, Preschool
;
Diagnosis, Differential
;
Electroencephalography
;
Epilepsies, Myoclonic
;
complications
;
diagnosis
;
drug therapy
;
physiopathology
;
Female
;
Fever
;
complications
;
physiopathology
;
Humans
;
Infant
;
Male
;
Prognosis
;
Seizures
;
drug therapy
;
etiology
;
physiopathology
;
Severity of Illness Index
Result Analysis
Print
Save
E-mail