Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Orphanet Journal of Rare Diseases|July 24, 2025
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophyTakanori Onuki, Makiko Tajika, Yohei Sugiyama, et al.
Scientific Reports|February 12, 2021
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in JapanNana Akiyama, Masaru Shimura, Taro Yamazaki, et al.
Molecular Genetics and Metabolism Reports|September 5, 2022
Severe spinal cord hypoplasia due to a novel <i>ATAD3A</i> compound heterozygous deletionTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 9, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosisTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
Brain & Development|December 30, 2025
Ferroptosis susceptibility in primary coenzyme Q<sub>10</sub> deficiency: Cellular insights from patient fibroblasts and clinical course of six individualsChika Watanabe, Akihiko Miyauchi, Shiho Aoki, et al.
Molecular Genetics and Metabolism Reports|October 20, 2021
Valine metabolites analysis in ECHS1 deficiencyMari Kuwajima, Karin Kojima, Hitoshi Osaka, et al.
Orphanet Journal of Rare Diseases|July 25, 2020
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantationMasaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, et al.
International Journal of Cardiology|July 23, 2021
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patientsAtsuko Imai-Okazaki, Ayako Matsunaga, Yukiko Yatsuka, et al.
Pageof 3