PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Hammann, N.* et al. Hepatic form of dihydrolipoamide dehydrogenase deficiency (DLDD): Phenotypic spectrum, laboratory findings, and therapeutic approaches in 52 patients. J. Inherit. Metab. Dis. 48:e70035 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74671&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74671&la=de Thu, 22 May 2025 00:00:00 +0000 <![CDATA[Peters, B.* et al. Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency. J. Inherit. Metab. Dis., DOI: 10.1002/jimd.12707 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69852&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69852&la=de Wed, 17 Apr 2024 00:00:00 +0000 <![CDATA[Wedman, J.J.* ; Sibon, O.C.M.* ; Mastantuono, E.* & Iuso, A. Impaired coenzyme A homeostasis in cardiac dysfunction and benefits of boosting coenzyme A production with vitamin B5 and its derivatives in the management of heart failure. J. Inherit. Metab. Dis., DOI: 10.1002/jimd.12737 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70416&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70416&la=de Fri, 24 May 2024 00:00:00 +0000 <![CDATA[Smirnov, D. ; Konstantinovskiy, N.* & Prokisch, H. Integrative omics approaches to advance rare disease diagnostics. J. Inherit. Metab. Dis. 46, 824-838 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68016&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68016&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Jiang, H.* et al. Identification and characterisation of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency. J. Inherit. Metab. Dis., DOI: 10.1002/jimd.12462 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63804&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63804&la=de Mon, 31 Jan 2022 00:00:00 +0000 <![CDATA[Stenton, S. ; Kremer, L.S. ; Kopajtich, R. ; Ludwig, C.* & Prokisch, H. The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics. J. Inherit. Metab. Dis. 43, 25-35 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56132&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56132&la=de Mon, 27 May 2019 00:00:00 +0000 <![CDATA[Segal, J.* et al. Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency. J. Inherit. Metab. Dis. 42, 839-849 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56096&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56096&la=de Wed, 22 May 2019 00:00:00 +0000 <![CDATA[Wagner, M. et al. Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease. J. Inherit. Metab. Dis. 42, 909-917 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55992&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55992&la=de Wed, 15 May 2019 00:00:00 +0000 <![CDATA[Wortmann, S.B. & Mayr, J.A.* Choline-related-inherited metabolic diseases - A mini review. J. Inherit. Metab. Dis. 42, 237-242 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55703&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55703&la=de Fri, 22 Mar 2019 00:00:00 +0000 <![CDATA[Kremer, L.S. ; Wortmann, S.B. & Prokisch, H. "Transcriptomics": Molecular diagnosis of inborn errors of metabolism via RNA-sequencing. J. Inherit. Metab. Dis. 41, 525-532 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52840&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52840&la=de Thu, 22 Mar 2018 00:00:00 +0000 <![CDATA[Thiel, C.* et al. Severe ichthyosis in MPDU1-CDG. J. Inherit. Metab. Dis. 41, 1293-1294 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55162&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55162&la=de Mon, 21 Jan 2019 00:00:00 +0000 <![CDATA[van Karnebeek, C.D.M.* et al. The role of the clinician in the multi-omics era: Are you ready? J. Inherit. Metab. Dis. 41, 571-582 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52831&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52831&la=de Thu, 22 Mar 2018 00:00:00 +0000 <![CDATA[Pronicka, E.* et al. A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. J. Inherit. Metab. Dis. 40, 853-860 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51558&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51558&la=de Mon, 24 Jul 2017 00:00:00 +0000 <![CDATA[Wortmann, S.B. et al. Mild orotic aciduria in UMPS heterozygotes: A metabolic finding without clinical consequences. J. Inherit. Metab. Dis. 40, 423-431 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50555&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50555&la=de Thu, 23 Mar 2017 00:00:00 +0000 <![CDATA[Korner, G.* et al. Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice. J. Inherit. Metab. Dis. 39, 309-319 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47811&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47811&la=de Thu, 04 Feb 2016 00:00:00 +0000 <![CDATA[Staufner, C.* et al. Recurrent acute liver failure due to NBAS deficiency: Phenotypic spectrum, disease mechanisms, and therapeutic concepts. J. Inherit. Metab. Dis. 39, 3-16 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47221&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47221&la=de Sun, 08 Nov 2015 00:00:00 +0000 <![CDATA[Staufner, C.* et al. Genetic cause and prevalence of hydroxyprolinemia. J. Inherit. Metab. Dis. 39, 625-632 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48524&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48524&la=de Mon, 09 May 2016 00:00:00 +0000 <![CDATA[Huemer, M.-T.* et al. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J. Inherit. Metab. Dis. 38, 905-914 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44738&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44738&la=de Fri, 08 May 2015 00:00:00 +0000 <![CDATA[Mayr, J.A.* et al. Spectrum of combined respiratory chain defects. J. Inherit. Metab. Dis. 38, 629-640 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43973&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43973&la=de Fri, 27 Mar 2015 00:00:00 +0000 <![CDATA[Sperl, W.J.K.* et al. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. J. Inherit. Metab. Dis. 38, 391-403 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43011&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43011&la=de Thu, 01 Jan 2015 00:00:00 +0000 <![CDATA[Haack, T.B. et al. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. J. Inherit. Metab. Dis. 36, 55-62 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11158&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11158&la=de Fri, 30 Nov 2012 00:00:00 +0000 <![CDATA[Haack, T.B. et al. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J. Inherit. Metab. Dis. 35, 943-948 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11156&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11156&la=de Fri, 30 Nov 2012 00:00:00 +0000