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Human Genome Variation|January 17, 2022
MCAD deficiency caused by compound heterozygous pathogenic variants in ACADMFumikatsu Nohara, Go Tajima, Hideo Sasai, et al.World Journal of Pediatrics : WJP|August 30, 2011
Acute cerebellitis associated with rotavirus infectionZenichiro Kato, Hideo Sasai, Michinori Funato, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|January 12, 2026
Severe metabolic acidosis in succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: case report of a novel pathogenic OXCT1 variant (L131_E132dup) and its pathophysiological basisNatsuho Adachi, Hideki Matsumoto, Mai Mori, et al.Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|July 19, 2022
A case of endomyocardial biopsy-proven early stage cardiac involvement in heterozygous Fabry diseaseHiromitsu Kanamori, Akihiro Yoshida, Hideo Sasai, et al.Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|March 29, 2021
Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature reviewKenji Shoda, Naoyuki Ohe, Hideo Sasai, et al.Journal of Human Genetics|November 6, 2018
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiencyToshiyuki Fukao, Hideo Sasai, Yuka Aoyama, et al.Gene|April 27, 2018
Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exonsMina Nakama, Hiroki Otsuka, Yasuhiko Ago, et al.Analytical Chemistry|August 12, 2025
Toward the Development of a Novel Newborn Screening Modality: In-Depth Nontargeted Proteome Analysis of Dried Blood Spots with a Robotic Pipeline Using Low-Cost Iron PowdersDaisuke Nakajima, Masaki Ishikawa, Ryo Konno, et al.Molecular Genetics & Genomic Medicine|December 24, 2021
Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON)Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, et al.JIMD Reports|August 9, 2019
A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemiaYasuhiko Ago, Hideo Sugie, Tokiko Fukuda, et al.Pageof 6