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Hammann,\ N.*\ ; Staufner,\ C.*\ ; Schlieben,\ L.D.\ ; Dezsőfi-Gottl,\ A.*\ ; Feichtinger,\ R.G.*\ ; Häberle,\ J.*\ ; Junge,\ N.*\ ; Konstantopoulou,\ V.*\ ; Kopajtich,\ R.\ ; McLin,\ V.*\ ; Rymen,\ D.*\ ; Slavetinsky,\ C.*\ ; Sturm,\ E.*\ ; Mayr,\ J.A.*\ ; Wagner,\ M.\ ; Kölker,\ S.*\ ; Prokisch,\ H.\ ; Hoffmann,\ G.F.*\ ; Lenz,\ D.*
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Hepatic form of dihydrolipoamide dehydrogenase deficiency (DLDD): Phenotypic spectrum, laboratory findings, and therapeutic approaches in 52 patients.
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J. Inherit. Metab. Dis. 48:e70035 (2025)
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Peters,\ B.*\ ; Dattner,\ T.*\ ; Schlieben,\ L.D.\ ; Sun,\ T.*\ ; Staufner,\ C.*\ ; Lenz,\ D.*
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Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.
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J. Inherit. Metab. Dis., DOI: 10.1002/jimd.12707 (2024)
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Wedman,\ J.J.*\ ; Sibon,\ O.C.M.*\ ; Mastantuono,\ E.*\ ; Iuso,\ A.
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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.
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J. Inherit. Metab. Dis., DOI: 10.1002/jimd.12737 (2024)
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Smirnov,\ D.\ ; Konstantinovskiy,\ N.*\ ; Prokisch,\ H.
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Integrative omics approaches to advance rare disease diagnostics.
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J. Inherit. Metab. Dis. 46, 824-838 (2023)
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Jiang,\ H.*\ ; Alahmad,\ A.*\ ; Fu,\ S.*\ ; Fu,\ X.*\ ; Liu,\ Z.*\ ; Han,\ X.*\ ; Li,\ L.*\ ; Song,\ T.*\ ; Xu,\ M.*\ ; Liu,\ S.*\ ; Wang,\ J.*\ ; Albash,\ B.*\ ; Alaqeel,\ A.*\ ; Catalina,\ V.\ ; Prokisch,\ H.\ ; Taylor,\ R.W.*\ ; McFarland,\ R.*\ ; Fang,\ F.*
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Identification and characterisation of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
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J. Inherit. Metab. Dis., DOI: 10.1002/jimd.12462 (2022)
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Stenton,\ S.\ ; Kremer,\ L.S.\ ; Kopajtich,\ R.\ ; Ludwig,\ C.*\ ; Prokisch,\ H.
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The diagnosis of inborn errors of metabolism by an integrative \"multi-omics\" approach: A perspective encompassing genomics, transcriptomics, and proteomics.
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J. Inherit. Metab. Dis. 43, 25-35 (2020)
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Segal,\ J.*\ ; Mülleder,\ M.*\ ; Krüger,\ A.*\ ; Adler,\ T.\ ; Scholze-Wittler,\ M.*\ ; Becker,\ L.\ ; Calzada-Wack,\ J.\ ; Garrett,\ L.\ ; Hölter,\ S.M.\ ; Rathkolb,\ B.\ ; Rozman,\ J.\ ; Rácz,\ I.\ ; Fischer,\ R.\ ; Busch,\ D.H.*\ ; Neff,\ F.\ ; Klingenspor,\ M.*\ ; Klopstock,\ T.*\ ; Grüning,\ N.M.*\ ; Michel,\ S.*\ ; Lukaszewska-McGreal,\ B.*\ ; Voigt,\ I.*\ ; Hartmann,\ L.*\ ; Timmermann,\ B.*\ ; Lehrach,\ H.*\ ; Wolf,\ E.*\ ; Wurst,\ W.\ ; Gailus-Durner,\ V.\ ; Fuchs,\ H.\ ; Hrabě de Angelis,\ M.\ ; Schrewe,\ H.*\ ; Yuneva,\ M.*\ ; Ralser,\ M.*
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Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.
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J. Inherit. Metab. Dis. 42, 839-849 (2019)
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Wagner,\ M.\ ; Berutti,\ R.\ ; Lorenz-Depiereux,\ B.\ ; Graf,\ E.\ ; Eckstein,\ G.\ ; Mayr,\ J.A.*\ ; Meitinger,\ T.\ ; Ahting,\ U.*\ ; Prokisch,\ H.\ ; Strom,\ T.M.\ ; Wortmann,\ S.B.
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Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease.
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J. Inherit. Metab. Dis. 42, 909-917 (2019)
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Wortmann,\ S.B.\ ; Mayr,\ J.A.*
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Choline-related-inherited metabolic diseases - A mini review.
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J. Inherit. Metab. Dis. 42, 237-242 (2019)
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Kremer,\ L.S.\ ; Wortmann,\ S.B.\ ; Prokisch,\ H.
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\"Transcriptomics\": Molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
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J. Inherit. Metab. Dis. 41, 525-532 (2018)
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Thiel,\ C.*\ ; Wortmann,\ S.B.\ ; Riedhammer,\ K.*\ ; Alhaddad,\ B.\ ; Mayatepek,\ E.*\ ; Prokisch,\ H.\ ; Distelmaier,\ F.*
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Severe ichthyosis in MPDU1-CDG.
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J. Inherit. Metab. Dis. 41, 1293-1294 (2018)
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van Karnebeek,\ C.D.M.*\ ; Wortmann,\ S.B.\ ; Tarailo-Graovac,\ M.*\ ; Langeveld,\ M.*\ ; Ferreira,\ C.R.*\ ; van de Kamp,\ J.M.*\ ; Hollak,\ C.E.*\ ; Wasserman,\ W.W.*\ ; Waterham,\ H.R.*\ ; Wevers,\ R.A.*\ ; Haack,\ T.B.*\ ; Wanders,\ R.J.A.*\ ; Boycott,\ K.M.*
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The role of the clinician in the multi-omics era: Are you ready?
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J. Inherit. Metab. Dis. 41, 571-582 (2018)
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Pronicka,\ E.*\ ; Ropacka-Lesiak,\ M.*\ ; Trubicka,\ J.*\ ; Pajdowska,\ M.*\ ; Linke,\ M.*\ ; Ostergaard,\ E.*\ ; Saunders,\ C.*\ ; Horsch,\ S.*\ ; van Karnebeek,\ C.*\ ; Yaplito-Lee,\ J.*\ ; Distelmaier,\ F.*\ ; Õunap,\ K.*\ ; Rahman,\ S.*\ ; Castelle,\ M.*\ ; Kelleher,\ J.*\ ; Baris,\ S.*\ ; Iwanicka-Pronicka,\ K.*\ ; Steward,\ C.G.*\ ; Ciara,\ E.*\ ; Wortmann,\ S.B.
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A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
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J. Inherit. Metab. Dis. 40, 853-860 (2017)
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Wortmann,\ S.B.\ ; Chen,\ M.A.*\ ; Colombo,\ R.*\ ; Pontoglio,\ A.*\ ; Alhaddad,\ B.*\ ; Botto,\ L.D.*\ ; Yuzyuk,\ T.*\ ; Coughlin,\ C.R.*\ ; Descartes,\ M.*\ ; Grűnewald,\ S.*\ ; Maranda,\ B.*\ ; Mills,\ P.B.*\ ; Pitt,\ J.*\ ; Potente,\ C.*\ ; Rodenburg,\ R.*\ ; Kluijtmans,\ L.A.J.*\ ; Sampath,\ S.*\ ; Pai,\ E.F.*\ ; Wevers,\ R.A.*\ ; Tiller,\ G.E.*
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Mild orotic aciduria in \UMPS \heterozygotes: A metabolic finding without clinical consequences.
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J. Inherit. Metab. Dis. 40, 423-431 (2017)
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Korner,\ G.*\ ; Scherer,\ T.*\ ; Adamsen,\ D.*\ ; Rebuffat,\ A.*\ ; Crabtree,\ M.*\ ; Rassi,\ A.*\ ; Scavelli,\ R.*\ ; Homma,\ D.*\ ; Ledermann,\ B.*\ ; Konrad,\ D.*\ ; Ichinose,\ H.*\ ; Wolfrum,\ C.*\ ; Horsch,\ M.\ ; Rathkolb,\ B.\ ; Klingenspor,\ M.*\ ; Beckers,\ J.\ ; Wolf,\ E.*\ ; Gailus-Durner,\ V.\ ; Fuchs,\ H.\ ; Hrabě de Angelis,\ M.\ ; Blau,\ N.*\ ; Rozman,\ J.\ ; Thöny,\ B.*
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Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to \Pts\ variants leads to unusual body fat distribution and abdominal obesity in mice.
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J. Inherit. Metab. Dis. 39, 309-319 (2016)
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Staufner,\ C.*\ ; Haack,\ T.B.\ ; Köpke,\ M.\ ; Straub,\ B.K.*\ ; Kolker,\ S.*\ ; Thiel,\ C.*\ ; Freisinger,\ P.*\ ; Baric,\ I.*\ ; McKiernan,\ P.J.*\ ; Dikow,\ N.*\ ; Harting,\ I.*\ ; Beisse,\ F.*\ ; Burgard,\ P.*\ ; Kotzaeridou,\ U.*\ ; Lenz,\ D.R.*\ ; Kühr,\ J.*\ ; Himbert,\ U.*\ ; Taylor,\ R.W.*\ ; Distelmaier,\ F.*\ ; Vockley,\ J.*\ ; Ghaloul-Gonzalez,\ L.*\ ; Ozolek,\ J.A.*\ ; Zschocke,\ J.*\ ; Kuster,\ A.*\ ; Dick,\ A.*\ ; Das,\ A.M.*\ ; Wieland,\ T.\ ; Terrile,\ C.\ ; Strom,\ T.M.\ ; Meitinger,\ T.\ ; Prokisch,\ H.\ ; Hoffmann,\ G.F.*
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Recurrent acute liver failure due to NBAS deficiency: Phenotypic spectrum, disease mechanisms, and therapeutic concepts.
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J. Inherit. Metab. Dis. 39, 3-16 (2016)
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Staufner,\ C.*\ ; Haack,\ T.B.\ ; Feyh,\ P.*\ ; Gramer,\ G.*\ ; Raga,\ D.E.*\ ; Terrile,\ C.\ ; Sauer,\ S.*\ ; Okun,\ J.G.*\ ; Fang-Hoffmann,\ J.*\ ; Mayatepek,\ E.*\ ; Prokisch,\ H.\ ; Hoffmann,\ G.F.*\ ; Kolker,\ S.*
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Genetic cause and prevalence of hydroxyprolinemia.
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J. Inherit. Metab. Dis. 39, 625-632 (2016)
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Huemer,\ M.-T.*\ ; Karall,\ D.*\ ; Schossig,\ A.*\ ; Abdenur,\ J.E.*\ ; Al Jasmi,\ F.*\ ; Biagosch,\ C.*\ ; Distelmaier,\ F.*\ ; Freisinger,\ P.*\ ; Graham,\ B.H.*\ ; Haack,\ T.B.\ ; Hauser,\ N.*\ ; Hertecant,\ J.*\ ; Ebrahimi-Fakhari,\ D.*\ ; Konstantopoulou,\ V.*\ ; Leydiker,\ K.*\ ; Lourenco,\ C.M.*\ ; Scholl-Bürgi,\ S.*\ ; Wilichowski,\ E.*\ ; Wolf,\ N.I.*\ ; Wortmann,\ S.B.*\ ; Taylor,\ R.W.*\ ; Mayr,\ J.A.*\ ; Bonnen,\ P.E.*\ ; Sperl,\ W.*\ ; Prokisch,\ H.\ ; McFarland,\ R.*
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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to \FBXL4\ mutations.
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J. Inherit. Metab. Dis. 38, 905-914 (2015)
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Mayr,\ J.A.*\ ; Haack,\ T.B.\ ; Freisinger,\ P.*\ ; Karall,\ D.*\ ; Makowski,\ C.C.*\ ; Koch,\ J.*\ ; Feichtinger,\ R.G.*\ ; Zimmermann,\ F.A.*\ ; Rolinski,\ B.*\ ; Ahting,\ U.*\ ; Meitinger,\ T.\ ; Prokisch,\ H.\ ; Sperl,\ W.J.K.*
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Spectrum of combined respiratory chain defects.
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J. Inherit. Metab. Dis. 38, 629-640 (2015)
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Sperl,\ W.J.K.*\ ; Fleuren,\ L.*\ ; Freisinger,\ P.*\ ; Haack,\ T.B.\ ; Ribes,\ A.A.*\ ; Feichtinger,\ R.G.*\ ; Rodenburg,\ R.J.T.*\ ; Zimmermann,\ F.A.*\ ; Koch,\ J.*\ ; Rivera,\ I.A.*\ ; Prokisch,\ H.\ ; Smeitink,\ J.A.M.*\ ; Mayr,\ J.A.*
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The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
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J. Inherit. Metab. Dis. 38, 391-403 (2015)
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Haack,\ T.B.\ ; Rolinski,\ B.*\ ; Haberberger,\ B.\ ; Zimmermann,\ F.*\ ; Schum,\ J.\ ; Strecker,\ V.*\ ; Graf,\ E.\ ; Athing,\ U.*\ ; Hoppen,\ T.*\ ; Wittig,\ I.*\ ; Sperl,\ W.*\ ; Freisinger,\ P.*\ ; Mayr,\ J.A.*\ ; Strom,\ T.M.\ ; Meitinger,\ T.\ ; Prokisch,\ H.
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Homozygous missense mutation in \BOLA3\ causes multiple mitochondrial dysfunctions syndrome in two siblings.
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J. Inherit. Metab. Dis. 36, 55-62 (2013)
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Haack,\ T.B.\ ; Makowski,\ C.*\ ; Yao,\ Y.*\ ; Graf,\ E.\ ; Hempel,\ M.*\ ; Wieland,\ T.\ ; Tauer,\ U.*\ ; Ahting,\ U.*\ ; Mayr,\ J.A.*\ ; Freisinger,\ P.*\ ; Yoshimatsu,\ H.*\ ; Inui,\ K.*\ ; Strom,\ T.M.\ ; Meitinger,\ T.\ ; Yonezawa,\ A.*\ ; Prokisch,\ H.
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Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
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J. Inherit. Metab. Dis. 35, 943-948 (2012)
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