PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73410&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73410&la=de Tue, 25 Feb 2025 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72320&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72320&la=de Mon, 25 Nov 2024 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59091&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59091&la=de Mon, 18 May 2020 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53683&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53683&la=de Fri, 29 Jun 2018 00:00:00 +0000 <![CDATA[Thiels, C.* et al. Atypical clinical presentations of TAZ mutations: An underdiagnosed cause of growth retardation? JIMD Rep., 89-93 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47900&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47900&la=de Wed, 17 Feb 2016 00:00:00 +0000 <![CDATA[Diodato, D.* et al. Common and novel TMEM70 mutations in a cohort of Italian patients with mitochondrial encephalocardiomyopathy. JIMD Rep. 15, 71-78 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31213&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31213&la=de Mon, 05 May 2014 00:00:00 +0000