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1.
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)
2.
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)
3.
Smirnov, D. ; Konstantinovskiy, N.* & Prokisch, H.: Integrative omics approaches to advance rare disease diagnostics. J. Inherit. Metab. Dis. 46, 824-838 (2023)
4.
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)
5.
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)
6.
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)
7.
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)
8.
Wortmann, S.B. & Mayr, J.A.*: Choline-related-inherited metabolic diseases - A mini review. J. Inherit. Metab. Dis. 42, 237-242 (2019)
9.
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)
10.
Thiel, C.* et al.: Severe ichthyosis in MPDU1-CDG. J. Inherit. Metab. Dis. 41, 1293-1294 (2018)
11.
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)
12.
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)
13.
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)
14.
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)
15.
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)
16.
Staufner, C.* et al.: Genetic cause and prevalence of hydroxyprolinemia. J. Inherit. Metab. Dis. 39, 625-632 (2016)
17.
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)
18.
Mayr, J.A.* et al.: Spectrum of combined respiratory chain defects. J. Inherit. Metab. Dis. 38, 629-640 (2015)
19.
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)
20.
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)
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