A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases.

Autor: Seyedtaghia, Mohammad Reza¹ (AUTHOR) seyedtaghiamr@yahoo.com, Jafarzadeh‐Esfehani, Reza² (AUTHOR), Hosseini, Seyedmojtaba^3,4 (AUTHOR), Kobravi, Sepehr⁵ (AUTHOR), Hakkaki, Mahdis¹ (AUTHOR), Nilipour, Yalda⁶ (AUTHOR) yalnil@yahoo.com

Publikováno v: Molecular Genetics & Genomic Medicine. Jul2024, Vol. 12 Issue 7, p1-13. 13p.

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Molecular study of electron transfer flavoprotein α-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.

Autor: Purevjav, E., Kimura, M., Takusa, Y., Ohura, T., Tsuchiya, M., Hara, N., Fukao, T., Yamaguchi, S.

Publikováno v: European Journal of Clinical Investigation; Sep2002, Vol. 32 Issue 9, p707-712, 6p

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.

Autor: Mori-Yoshimura, Madoka¹ (AUTHOR), Suzuki, Naoki² (AUTHOR), Katsuno, Masahisa^3,4 (AUTHOR), Takahashi, Masanori P.⁵ (AUTHOR), Yamashita, Satoshi⁶ (AUTHOR), Oya, Yasushi¹ (AUTHOR), Hashizume, Atsushi^3,4 (AUTHOR), Yamada, Shinichiro³ (AUTHOR), Nakamori, Masayuki⁵ (AUTHOR), Izumi, Rumiko² (AUTHOR), Kato, Masaaki² (AUTHOR), Warita, Hitoshi² (AUTHOR), Tateyama, Maki² (AUTHOR), Kuroda, Hiroshi² (AUTHOR), Asada, Ryuta⁷ (AUTHOR), Yamaguchi, Takuhiro⁸ (AUTHOR), Nishino, Ichizo⁹ (AUTHOR), Aoki, Masashi² (AUTHOR) aokim@med.tohoku.ac.jp

Publikováno v: Orphanet Journal of Rare Diseases. 8/11/2023, Vol. 18 Issue 1, p1-10. 10p.