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Orphanet Journal of Rare Diseases|March 8, 2024
Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in JapanKimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, et al.American Journal of Nephrology|October 22, 2009
Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry diseaseHideki Fujii, Keiji Kono, Shunsuke Goto, et al.Journal of Human Genetics|June 20, 2019
High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestationsNaoki Nakagawa, Jun Sawada, Naka Sakamoto, et al.Molecular Genetics and Metabolism|April 14, 2009
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese populationShingo Kumamoto, Tatsuya Katafuchi, Kimitoshi Nakamura, et al.International Archives of Allergy and Immunology|November 13, 2024
Safety of Oral Food Challenges for Individuals with Low Levels of Cow's Milk-Specific Immunoglobulin E AntibodiesTakanobu Yoshida, Jun Kido, Mika Ogata, et al.Journal of Inherited Metabolic Disease|July 7, 2021
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in JapanJun Kido, Shirou Matsumoto, Johannes Häberle, et al.Blood Advances|April 30, 2021
LSD1 defines erythroleukemia metabolism by controlling the lineage-specific transcription factors GATA1 and C/EBPαKensaku Kohrogi, Shinjiro Hino, Akihisa Sakamoto, et al.Journal of Human Genetics|May 12, 2019
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patientsKen Momosaki, Jun Kido, Shinichiro Yoshida, et al.Pediatrics|November 23, 2017
Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease SpectrumDavid F Kronn, Debra Day-Salvatore, Wuh-Liang Hwu, et al.Case Reports in Ophthalmology|April 18, 2017
Two Cases of Proliferative Diabetic Retinopathy with Marked Sheathing of the Retinal Arteries following VitrectomyYuko Nishikawa, Seita Morishita, Kimitoshi Nakamura, et al.Pageof 23