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The Journal of Dermatology|May 13, 2015
Pathological characterization of pachydermia in pachydermoperiostosisKeiji Tanese, Hironori Niizeki, Atsuhito Seki, et al.
Journal of Inherited Metabolic Disease|July 7, 2018
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathologyYoung Bae Sohn, Ah-Ra Ko, Mi-Ran Seong, et al.
Molecular Genetics and Metabolism|August 7, 2012
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific regionWuh-Liang Hwu, Torayuki Okuyama, Wai Man But, et al.
International Journal of Psychiatry in Medicine|April 19, 2011
Donepezil significantly improves abilities in daily lives of female Down syndrome patients with severe cognitive impairment: a 24-week randomized, double-blind, placebo-controlled trialTatsuro Kondoh, Atsushi Kanno, Hiroshi Itoh, et al.
Molecular Genetics and Metabolism|October 2, 2012
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in JapanAkemi Tanaka, Torayuki Okuyama, Yasuyuki Suzuki, et al.
Molecular Genetics and Metabolism|April 5, 2026
Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challengesJoseph Muenzer, Mark Dant, Patricia I Dickson, et al.
Orphanet Journal of Rare Diseases|July 24, 2025
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophyTakanori Onuki, Makiko Tajika, Yohei Sugiyama, et al.
The Journal of Obstetrics and Gynaecology Research|August 15, 2024
Impact of the new government-involved noninvasive prenatal testing certification system on the awareness of pregnant women about noninvasive prenatal testing in JapanNahoko Shirato, Akihiko Sekizawa, Keiko Miyagami, et al.
Journal of Dermatological Science|August 22, 2012
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosisTakashi Sasaki, Hironori Niizeki, Atsushi Shimizu, et al.
International Journal of Molecular Sciences|October 30, 2019
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type CMasamitsu Maekawa, Isamu Jinnoh, Yotaro Matsumoto, et al.
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