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

RATIONALE: 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...

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Detalles Bibliográficos
Autores principales: Hosoba, Sakura, Kito, Katsuyuki, Teramoto, Yukako, Adachi, Kaori, Nakanishi, Ryota, Asai, Ai, Iwasa, Masaki, Nishimura, Rie, Moritani, Suzuko, Kawahara, Masahiro, Minamiguchi, Hitoshi, Nanba, Eiji, Kushima, Ryoji, Andoh, Akira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076040/
https://www.ncbi.nlm.nih.gov/pubmed/29979419
http://dx.doi.org/10.1097/MD.0000000000011361

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