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Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Fatehi F, Okhovat AA, Nilipour Y, Mroczek M, Straub V, Töpf A, Palibrk A, Peric S, Rakocevic Stojanovic V, Najmabadi H, Nafissi S. Fatehi F, et al. Among authors: okhovat aa. Eur J Neurol. 2020 Nov;27(11):2257-2266. doi: 10.1111/ene.14402. Epub 2020 Jul 24. Eur J Neurol. 2020. PMID: 32558070 Free PMC article.
BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes.
Khani M, Shamshiri H, Taheri H, Hardy J, Bras JT, Carmona S, Moazzeni H, Alavi A, Heshmati A, Taghizadeh P, Nilipour Y, Ghazanfari T, Shahabi M, Okhovat AA, Rohani M, Valle G, Boostani R, Abdi S, Eshghi S, Nafissi S, Elahi E. Khani M, et al. Among authors: okhovat aa. Neurobiol Aging. 2021 Mar;99:102.e1-102.e10. doi: 10.1016/j.neurobiolaging.2020.09.021. Epub 2020 Oct 5. Neurobiol Aging. 2021. PMID: 33189404
40 results