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

מאת Orii, Kenji, Suzuki, Yasuyuki, Tomatsu, Shunji, Orii, Tadao, Fukao, Toshiyuki
הוצא לאור ב Diagnostics (Basel) (2020)

Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development

מאת Orii, Kenji E., Lee, Youngsoo, Kondo, Naomi, McKinnon, Peter J.
יצא לאור 2006

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

מאת Suzuki, Yasuyuki, Taylor, Madeleine, Orii, Kenji, Fukao, Toshiyuki, Orii, Tadao, Tomatsu, Shunji
הוצא לאור ב Diagnostics (Basel) (2020)

Growth charts for patients with Hunter syndrome()

מאת Patel, Pravin, Suzuki, Yasuyuki, Maeda, Miho, Yasuda, Eriko, Shimada, Tsutomu, Orii, Kenji E., Orii, Tadao, Tomatsu, Shunji
יצא לאור 2014

Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)

מאת Stapleton, Molly, Kubaski, Francyne, Mason, Robert W., Yabe, Hiromasa, Suzuki, Yasuyuki, Orii, Kenji E., Orii, Tadao, Tomatsu, Shunji
הוצא לאור ב Expert Opin Orphan Drugs (2017)

Structural basis for the multiple interactions of the MyD88 TIR domain in TLR4 signaling

מאת Ohnishi, Hidenori, Tochio, Hidehito, Kato, Zenichiro, Orii, Kenji E., Li, Ailian, Kimura, Takeshi, Hiroaki, Hidekazu, Kondo, Naomi, Shirakawa, Masahiro
יצא לאור 2009

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

מאת Orii, Kenji, Lim, Alaena, Tomatsu, Shunji, Stapleton, Molly, Suzuki, Yasuyuki, Simonaro, Calogera M., Schuchman, Edward H., Fukao, Toshiyuki, Matsumoto, Tadashi
הוצא לאור ב Diagnostics (Basel) (2019)

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

מאת Osaki, Yosuke, Saito, Atsushi, Kanemoto, Soshi, Kaneko, Masayuki, Matsuhisa, Koji, Asada, Rie, Masaki, Takao, Orii, Kenji, Fukao, Toshiyuki, Tomatsu, Shunji, Imaizumi, Kazunori
הוצא לאור ב Cell Death Dis (2018)

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis

מאת Khan, Shaukat A, Mason, Robert W., Giugliani, Roberto, Orii, Kenji, Fukao, Toshiyuki, Suzuki, Yasuyuki, Yamaguchi, Seiji, Kobayashi, Hironori, Orii, Tadao, Tomatsu, Shunji
הוצא לאור ב Mol Genet Metab (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...

מאת Langan, Thomas J., Jalal, Kabir, Barczykowski, Amy L., Carter, Randy L., Stapleton, Molly, Orii, Kenji, Fukao, Toshiyuki, Kobayashi, Hironori, Yamaguchi, Seiji, Tomatsu, Shunji
הוצא לאור ב JIMD Rep (2020)

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

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

Current therapies for Morquio A syndrome and their clinical outcomes

מאת Sawamoto, Kazuki, Suzuki, Yasuyuki, Mackenzie, William G., Theroux, Mary C., Pizarro, Christian, Yabe, Hiromasa, Orii, Kenji E., Mason, Robert W., Orii, Tadao, Tomatsu, Shunji
הוצא לאור ב Expert Opin Orphan Drugs (2016)

Biomarkers in patients with mucopolysaccharidosis type II and IV

מאת 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
הוצא לאור ב Mol Genet Metab Rep (2019)

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

מאת 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
הוצא לאור ב Mol Genet Metab Rep (2020)

Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII

מאת Shimada, Tsutomu, Tomatsu, Shunji, Yasuda, Eriko, Mason, Robert W., Mackenzie, William G., Shibata, Yuniko, Kubaski, Francyne, Giugliani, Roberto, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao
הוצא לאור ב JIMD Rep (2014)

Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency

מאת Frappart, Pierre-Olivier, Lee, Youngsoo, Russell, Helen R., Chalhoub, Nader, Wang, Yong-Dong, Orii, Kenji E., Zhao, Jingfeng, Kondo, Naomi, Baker, Suzanne J., McKinnon, Peter J.
יצא לאור 2009

Molecular Genetics and Metabolism

מאת Khan, Shaukat A., Peracha, Hira, Ballhausen, Diana, Wiesbauer, Alfred, Rohrbach, Marianne, Gautschi, Matthias, Mason, Robert W., Giugliani, Roberto, Suzuki, Yasuyuki, Orii, Kenji E., Orii, Tadao, Tomatsu, Shunji
הוצא לאור ב Mol Genet Metab (2017)

Therapies of mucopolysaccharidosis IVA (Morquio A syndrome)

מאת Tomatsu, Shunji, Alméciga-Díaz, Carlos J, Barbosa, Hector, Montaño, Adriana M, Barrera, Luis A, Shimada, Tsutomu, Yasuda, Eriko, Mackenzie, William G, Mason, Robert W, Suzuki, Yasuyuki, Orii, Kenji E, Orii, Tadao
הוצא לאור ב Expert Opin Orphan Drugs (2013)

Activities of Daily Living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation

מאת Tanjuakio, Julian, Suzuki, Yasuyuki, Patel, Pravin, Yasuda, Eriko, Kubaski, Francyne, Tanaka, Akemi, Yabe, Hiromasa, Mason, Robert W., Montaño, Adriana M., Orii, Kenji E., Orii, Koji O., Fukao, Toshiyuki, Orii, Tadao, Tomatsu, Shunji
הוצא לאור ב Mol Genet Metab (2014)

Molecular Genetics and Metabolism Special Edition: Diagnosis Diagnosis and Prognosis of Mucopolysaccharidosis IVA

מאת Peracha, Hira, Sawamoto, Kazuki, Averill, Lauren, Kecskemethy, Heidi, Theroux, Mary, Thacker, Mihir, Nagao, Kyoko, Pizarro, Christian, Mackenzie, William, Kobayashi, Hironori, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, Tomatsu, Shunji
הוצא לאור ב Mol Genet Metab (2018)