Chronic neuronopathic type of gaucher’s disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement

Scottish Medical Journal

Volumn 59, Issue 2, 2014, Pages e1-e6

  Botross, Nevein Philip ^a   Riad, Amgad Abadir ^a   Viswanathan, Shanthi ^b   Nordin, Rusli Bin ^a   Lock, H N ^b  

^a MONASH UNIVERSITY MALAYSIA   (Malaysia)

^b HOSPITAL KUALA LUMPUR   (Malaysia)

Author keywords

Beta glucocerebrosidase; Gaucher s disease; Lysosomal storage disorder

Indexed keywords

DISULFIRAM; INTERLEUKIN 18; INTERLEUKIN 1BETA CONVERTING ENZYME; RITONAVIR; TEMOZOLOMIDE; GLUCOSYLCERAMIDASE;

ALCOHOLISM; ARTICLE; CELL MIGRATION; DRUG TOLERABILITY; GLIOBLASTOMA; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; IMMUNE RESPONSE; INFLAMMATION; MICROGLIA; OVERALL SURVIVAL; WHOLE BODY RADIATION; ADOLESCENT; APRAXIAS; ATAXIA; CASE REPORT; COGNITION DISORDERS; DISEASE COURSE; ENZYMOLOGY; FEMALE; FUNCTIONAL NEUROIMAGING; GAUCHER DISEASE; METABOLISM; MYOCLONIC EPILEPSIES, PROGRESSIVE; PATHOPHYSIOLOGY;

ADOLESCENT; APRAXIAS; ATAXIA; COGNITION DISORDERS; DISEASE PROGRESSION; FEMALE; FUNCTIONAL NEUROIMAGING; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MYOCLONIC EPILEPSIES, PROGRESSIVE;

EID: 84908397592     PISSN: 00369330     EISSN: 20456441     Source Type: Journal    
DOI: 10.1177/0036933014529868     Document Type: Article

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