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Journal of Human Genetics|May 28, 2023
Novel ITPA variants identified by whole genome sequencing and RNA sequencingNanako Omichi, Yoshihito Kishita, Mina Nakama, et al.Neurology. Genetics|September 30, 2022
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure PalsyYasuko Kuroha, Takanobu Ishiguro, Mari Tada, et al.Pediatric Research|August 31, 2006
Relationship between oxidative stress and antioxidant systems in the liver of patients with Wilson disease: hepatic manifestation in Wilson disease as a consequence of augmented oxidative stressHironori Nagasaka, Ikuo Inoue, Ayano Inui, et al.Journal of Clinical Pathology|August 21, 2020
Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathyAtsuhito Takeda, Kei Murayama, Yasushi Okazaki, et al.Neurology. Genetics|December 17, 2025
Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA SequencingKohta Nakamura, Yoshihito Kishita, Ayumu Sugiura, et al.Molecular Genetics and Metabolism Reports|September 15, 2021
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic dietYurika Numata-Uematsu, Mitsugu Uematsu, Toshiyuki Yamamoto, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|September 2, 2019
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10Takumi Kadoya, Azumi Sakakibara, Kana Kitayama, et al.HGG Advances|June 10, 2026
Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrierKohta Nakamura, Atsuko Okazaki, Daisuke Motooka, et al.Journal of Inherited Metabolic Disease|September 23, 2020
A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspectionYasutoshi Koga, Nataliya Povalko, Eisuke Inoue, et al.Molecular Genetics and Metabolism Reports|July 17, 2020
Therapeutic effect of N-carbamylglutamate in CPS1 deficiencyYohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga, et al.Pageof 21