Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis

por Orii, Kenji, Suzuki, Yasuyuki, Tomatsu, Shunji, Orii, Tadao, Fukao, Toshiyuki
Publicado 2020

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

por Suzuki, Yasuyuki, Taylor, Madeleine, Orii, Kenji, Fukao, Toshiyuki, Orii, Tadao, Tomatsu, Shunji
Publicado 2020

Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan

por Shimozawa, Nobuyuki, Takashima, Shigeo, Kawai, Hiroki, Kubota, Kazuo, Sasai, Hideo, Orii, Kenji, Ogawa, Megumi, Ohnishi, Hidenori
Publicado 2021

Growth charts for patients with Hunter syndrome()

por Patel, Pravin, Suzuki, Yasuyuki, Maeda, Miho, Yasuda, Eriko, Shimada, Tsutomu, Orii, Kenji E., Orii, Tadao, Tomatsu, Shunji
Publicado 2014

Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II

por Orii, Kenji, Lim, Alaena, Tomatsu, Shunji, Stapleton, Molly, Suzuki, Yasuyuki, Simonaro, Calogera M., Schuchman, Edward H., Fukao, Toshiyuki, Matsumoto, Tadashi
Publicado 2019

Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II

por Osaki, Yosuke, Saito, Atsushi, Kanemoto, Soshi, Kaneko, Masayuki, Matsuhisa, Koji, Asada, Rie, Masaki, Takao, Orii, Kenji, Fukao, Toshiyuki, Tomatsu, Shunji, Imaizumi, Kazunori
Publicado 2018

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried b...

por Langan, Thomas J., Jalal, Kabir, Barczykowski, Amy L., Carter, Randy L., Stapleton, Molly, Orii, Kenji, Fukao, Toshiyuki, Kobayashi, Hironori, Yamaguchi, Seiji, Tomatsu, Shunji
Publicado 2020

Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome

por Patel, Pravin, Suzuki, Yasuyuki, Tanaka, Akemi, Yabe, Hiromasa, Kato, Shunichi, Shimada, Tsutomu, Mason, Robert W., Orii, Kenji E., Fukao, Toshiyuki, Orii, Tadao, Tomatsu, Shunji
Publicado 2014

Biomarkers in patients with mucopolysaccharidosis type II and IV

por Fujitsuka, Honoka, Sawamoto, Kazuki, Peracha, Hira, Mason, Robert W., Mackenzie, William, Kobayashi, Hironori, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, Tomatsu, Shunji
Publicado 2019

Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

por Stapleton, Molly, Kubaski, Francyne, Mason, Robert W., Shintaku, Haruo, Kobayashi, Hironori, Yamaguchi, Seiji, Taketani, Takeshi, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, Tomatsu, Shunji
Publicado 2020

Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses

por Oguni, Tsubasa, Tomatsu, Shunji, Tanaka, Misa, Orii, Kenji, Fukao, Toshiyuki, Watanabe, Jun, Fukuda, Seiji, Notsu, Yoshitomo, Vu, Dung Chi, Can, Thi Bich Ngoc, Nagai, Atsushi, Yamaguchi, Seiji, Taketani, Takeshi, Gelb, Michael H., Kobayashi, Hironori
Publicado 2020