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Molecular Therapy. Nucleic Acids|April 24, 2026
From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutive <i>PCCA</i> pseudoexonEriko Totsune, Yoichi Wada, Yasuko Mikami-Saito, et al.Skin Research and Technology : Official Journal of International Society for Bioengineering and the Skin (ISBS) [And] International Society for Digital Imaging of Skin (ISDIS) [And] International Society for Skin Imaging (ISSI)|May 17, 2021
Evaluation of subclinical chronic sun damage in the skin via the detection of long-lasting ultraweak photon emissionYu Gabe, Katsuya Takeda, Megumi Tobiishi, et al.Journal of Inherited Metabolic Disease|April 11, 2021
Long-term outcome of urea cycle disorders: Report from a nationwide study in JapanJun Kido, Shirou Matsumoto, Johannes Häberle, et al.Cancer Science|July 4, 2020
Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancerKatsuyuki Yokoi, Yoko Nakajima, Hiroshi Matsuoka, et al.Molecular Genetics and Metabolism|October 22, 2017
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activityYoko Nakajima, Judith Meijer, Doreen Dobritzsch, et al.CEN Case Reports|March 5, 2020
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile goutEikan Mishima, Takayasu Mori, Yoko Nakajima, et al.Genes to Cells : Devoted to Molecular & Cellular Mechanisms|March 4, 2014
Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patientDaisuke Satoh, Tohru Maeda, Tetsuya Ito, et al.Pediatric Surgery International|November 4, 2010
Pediatric patients receiving ABO-incompatible living related liver transplantation exhibit higher serum transforming growth factor-β1, interferon-γ and interleukin-2 levelsMohamed Hamed Hussein, Takashi Hashimoto, Ghada AbdEl-Hamid Daoud, et al.Internal Medicine (Tokyo, Japan)|July 5, 2021
Muscular Metastasis of Hepatocellular Carcinoma: Case Report and Literature ReviewAkihiro Nakayama, Jun Arai, Yumi Otoyama, et al.Experimental and Therapeutic Medicine|September 21, 2020
Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: <i>In vitro</i> functional analysis of five novel <i>HMGCS2</i> mutationsYasuhiko Ago, Hiroki Otsuka, Hideo Sasai, et al.Pageof 9