Heckmann, K.* et al. Correction to “Expanding the genetic and clinicalspectrum of SLC25A42 associated disorders and testing ofpantothenic acid to improve CoA level in vitro”. JIMD Rep. 66:e70002 (2025)
Heckmann, K.* et al. Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro. JIMD Rep. 65, 417-425 (2024)
Della Marina, A.* ; Leiendecker, B.* ; Roesch, S.* & Wortmann, S.B. Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome). JIMD Rep. 53, 10-11 (2020)
Iuso, A. et al. A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy. JIMD Rep. 44, 1–7 (2018)
Thiels, C.* et al. Atypical clinical presentations of TAZ mutations: An underdiagnosed cause of growth retardation? JIMD Rep., 89-93 (2016)
Diodato, D.* et al. Common and novel TMEM70 mutations in a cohort of Italian patients with mitochondrial encephalocardiomyopathy. JIMD Rep. 15, 71-78 (2015)