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A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report.

著者 Hosoba S , Kito K , Teramoto Y , Adachi K , Nakanishi R , Asai A , Iwasa M , Nishimura R , Moritani S , Kawahara M , Minamiguchi H , Nanba E , Kushima R , Andoh A
Medicine (Baltimore).2018 Jul ; 97(27):e11361.
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Gaucher disease (GD) is an autosomal recessive disorder that leads to multiorgan complications caused by β-glucocerebrosidase deficiency due to mutations in the β-glucocerebrosidase-encoding gene (GBA). GD morbidity in Japan is quite rare and clinical phenotype and gene mutation patterns of patients with GD in Japan and Western countries differ considerably. Of Japanese patients with GD, 57% develop types 2 or 3 GD with neurologic manifestations and younger onset, whereas only 6% of patients with GD develop those manifestations in Western countries. Thus, it is relatively difficult to find and diagnose GD in Japan.
PMID: 29979419 [PubMed - in process]
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