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Molecular Genetics and Metabolism|November 14, 2012
No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A geneMasahisa Kobayashi, Toya Ohashi, Takahiro Fukuda, et al.Molecular Genetics and Metabolism|April 23, 2010
Plasma globotriaosylsphingosine as a biomarker of Fabry diseaseTadayasu Togawa, Takashi Kodama, Toshihiro Suzuki, et al.Molecular Genetics and Metabolism|July 2, 2013
Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp)Shiho Kawagoe, Takashi Higuchi, Manami Otaka, et al.JIMD Reports|February 23, 2013
Foot process effacement with normal urinalysis in classic fabry diseaseTakahiro Kanai, Takanori Yamagata, Takane Ito, et al.Journal of Inherited Metabolic Disease|December 16, 2014
Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type IIKentaro Yokoi, Kazumasa Akiyama, Eiko Kaneshiro, et al.Cancer Science|May 1, 2021
Suppression of lysosomal acid alpha-glucosidase impacts the modulation of transcription factor EB translocation in pancreatic cancerRyoga Hamura, Yoshihiro Shirai, Yohta Shimada, et al.Plos One|September 2, 2021
Nafamostat mesilate, a nuclear factor kappa B inhibitor, enhances the antitumor action of radiotherapy on gallbladder cancer cellsNaoki Takada, Hiroshi Sugano, Yoshihiro Shirai, et al.Endocrine Journal|September 20, 2007
In vitro and pathological investigations of MODY5 with the R276X-HNF1beta (TCF2) mutationKei Fujimoto, Takashi Sasaki, Yoshito Hiki, et al.JIMD Reports|June 4, 2016
Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large DeletionsTakashi Higuchi, Masahisa Kobayashi, Jin Ogata, et al.Molecular Genetics and Metabolism|June 28, 2005
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometryTeruo Kitagawa, Nobuyuki Ishige, Ken Suzuki, et al.Pageof 14