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Orphanet Journal of Rare Diseases|February 24, 2022
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasiaYohei Sugiyama, Taijiro Watanabe, Makiko Tajika, et al.
International Journal of Neonatal Screening|June 25, 2026
A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in JapanTomoko Lee, Miki Matsui, Yoko Yokoyama, et al.
BMC Nephrology|August 30, 2020
A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytesYujiro Maeoka, Toshiki Doi, Masaho Aizawa, et al.
Frontiers in Genetics|July 29, 2021
Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese PatientRui Ban, Zhimei Liu, Masaru Shimura, et al.
Human Genome Variation|August 23, 2018
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutationTomoko Lee, Maiko Misaki, Hideki Shimomura, et al.
FEBS Letters|April 16, 2020
Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in DrosophilaKohei Ohnuma, Yoshihito Kishita, Hiromi Nyuzuki, et al.
Brain & Development|August 25, 2020
Guidelines for the diagnosis and treatment of acute encephalopathy in childhoodMasashi Mizuguchi, Takashi Ichiyama, George Imataka, et al.
Clinical Genetics|May 10, 2020
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiencyYukiko Yatsuka, Yoshihito Kishita, Luke E Formosa, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndromeHiroko Shimbo, Mariko Takagi, Mitsuko Okuda, et al.
Brain & Development|June 26, 2025
National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third studyTaku Omata, Hiroshi Sakuma, Hiroaki Nagase, et al.
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