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Molecular Genetics and Metabolism Reports|August 11, 2020
Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental courseJoo-Hyun Seo, Torayuki Okuyama, Elsa Shapiro, et al.
Molecular Genetics and Metabolism|November 3, 2023
Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 studyJoo-Hyun Seo, Motomichi Kosuga, Takashi Hamazaki, et al.
Brain & Development|January 9, 2017
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from JapanToshiyuki Yamamoto, Keiko Shimojima, Mayumi Matsufuji, et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology|March 20, 2003
Bcl-2 prevents doxorubicin-induced apoptosis of human liver cancer cellsMasahiko Takahashi, Hidetsugu Saito, Kazuhiro Atsukawa, et al.
Brain & Development|August 6, 2018
Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry systemKen Sakurai, Toya Ohashi, Nobuyuki Shimozawa, et al.
Molecular Genetics and Metabolism|June 3, 2004
Genitourinary phenotype in XX patients with distal 9p monosomyYoko Fujimoto, Torayuki Okuyama, Makoto Iijima, et al.
Human Genome Variation|October 25, 2019
Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletionTakao Hoshina, Toshiyuki Seto, Taro Shimono, et al.
Molecular Genetics and Metabolism Reports|June 23, 2016
A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MSRyuichi Mashima, Misa Tanaka, Eri Sakai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2014
The natural history of MPS I: global perspectives from the MPS I RegistryMichael Beck, Pamela Arn, Roberto Giugliani, et al.
The Tohoku Journal of Experimental Medicine|April 26, 2006
Encapsulation cell therapy for mucopolysaccharidosis type VII using genetically engineered immortalized human amniotic epithelial cellsHideyuki Nakama, Keiko Ohsugi, Taisuke Otsuki, et al.
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