Gaucher Disease Patient With Myoclonus Epilepsy and a Novel Mutation

Pediatric Neurology

Volumn 42, Issue 1, 2010, Pages 65-68

  Tajima, Asako ^a   Ohashi, Toya ^a   Hamano, Shin ichiro ^a,b   Higurashi, Norimichi ^a,b   Ida, Hiroyuki ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; ETHOSUXIMIDE; GLUCOSYLCERAMIDASE; PHENOBARBITAL; PIRACETAM; VALPROIC ACID;

ABSENCE; ADD ON THERAPY; ADOLESCENT; ANIMAL CELL; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CELL STRAIN COS1; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; DNA EXTRACTION; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; EYE MOVEMENT DISORDER; FEMALE; GAUCHER DISEASE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MYOCLONUS EPILEPSY; NONHUMAN; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; PROTEIN EXPRESSION; PROTEIN STABILITY; THROMBOCYTE COUNT; TONIC CLONIC SEIZURE; TREMOR; WALKING DIFFICULTY; WESTERN BLOTTING;

ADOLESCENT; ANIMALS; ANTICONVULSANTS; BONE MARROW; CERCOPITHECUS AETHIOPS; COS CELLS; EPILEPSIES, MYOCLONIC; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MUTATION; PROTEIN STABILITY;

EID: 71149083126     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2009.08.007     Document Type: Article

References (11)

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