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1. New Variant Mutation of Glucosylceramidase Beta (GBA) and Early Enzyme Replacement Therapy for Neuronopathic Gaucher Disease: A Case Report and Literature Review.

Author

Daiji Takajo, Hiroshi Matsumoto, Takahiro Noguchi, Naoto Nishimura, and Shigeaki Nonoyama

Subjects
THERAPEUTIC use of enzymes, GAUCHER'S disease diagnosis, SEIZURES (Medicine), FAILURE to thrive syndrome, GAUCHER'S disease, GLYCOSIDASES, GENETIC mutation, SPASMS, LITERATURE reviews, SYMPTOMS
Published
2020
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