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1.
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)
2.
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)
3.
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)
4.
Thiels, C.* et al.: Atypical clinical presentations of TAZ mutations: An underdiagnosed cause of growth retardation? JIMD Rep., 89-93 (2016)
5.
Diodato, D.* et al.: Common and novel TMEM70 mutations in a cohort of Italian patients with mitochondrial encephalocardiomyopathy. JIMD Rep. 15, 71-78 (2015)
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