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The EMBO Journal|March 28, 2026
CDKAL1 dysfunction impairs lysine codon translation in podocytes and accelerates chronic kidney diseaseHiroko Nagata, Yu Nagayoshi, Takeshi Chujo, et al.
JCI Insight|March 17, 2026
Position-5-Driven Reorientation of an Immunodominant HLA-A*24:02 SARS-CoV-2 Epitope Drives Universal T-cell EscapeTakeshi Nakama, Aaron Wall, Garry Dolton, et al.
Biochemistry and Biophysics Reports|April 13, 2026
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidosesWataru Oboshi, Asami Hirakiyama, Masahiro Miura, et al.
Internal Medicine Journal|November 11, 2018
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiativeAtul Mehta, David J Kuter, Sam S Salek, et al.
Molecular Genetics & Genomic Medicine|March 30, 2024
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature reviewKanako Higashi, Yuri Sonoda, Noriyuki Kaku, et al.
Frontiers in Immunology|June 27, 2025
Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological surveyMayuka Shiraki, Saori Kadowaki, Yuki Miwa, et al.
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