Open AccessNew Variant Mutation of Glucosylceramidase Beta (GBA) and Early Enzyme Replacement Therapy for Neuronopathic Gaucher Disease: A Case Report and Literature Review
Author(s) -
Daiji Takajo,
Hiroshi Matsumoto,
Takahiro Noguchi,
Naoto Nishimura,
Shigeaki oyama
Publication year - 2020
Publication title -
iranian journal of pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.168
H-Index - 25
eISSN - 2008-2150
pISSN - 2008-2142
DOI - 10.5812/ijp.98996
Subject(s) - medicine , enzyme replacement therapy , missense mutation , failure to thrive , pediatrics , compound heterozygosity , disease , glucocerebrosidase , gaucher's disease , mutation , gastroenterology , genetics , biology , gene