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Publications

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency Penkl, Maximilian; Mayr, Johannes A.; Feichtinger, René G.; Reilmann, Ralf; Debus, Otfried; Fobker, Manfred; Penkl, Anja; Reunert, Janine; Rust,Stephan; Marquardt, Thorsten (2024) In: Metabolites, 14(4), 238. Research article (journal)
Managing type 1 diabetes mellitus with a ketogenic diet Gardemann, Clemens; Knowles, Sonja; Marquardt, Thorsten (2023) In: Endocrinology, Diabetes and Metabolism - Case Reports (EDM case reports), 2023(3). Research article (journal)
Mitochondrial DNA mutations in Medulloblastoma Funke V.L.E.; Sandmann S.; Melcher V.; Seggewiss J.; Horvath J.; Jäger N.; Kool M.; Jones D.T.W.; Pfister S.M.; Milde T.; Rutkowski S.; Mynarek M.; Varghese J.; Sträter R.; Rust S.; Seelhöfer A.; Reunert J.; Fiedler B.; Schüller U.; Marquardt T.; Kerl K. (2023) In: Acta neuropathologica communications, 11(1). Research article (journal)
L-Fucose treatment of FUT8-CDG. Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T (2020) In: Molecular Genetics and Metabolism Reports, 25. Research article (journal)
INFLUENCE OF INDIVIDUAL PAH MUTATIONS ON SAPROPTERIN RESPONSE IN PKU PATIENTS: RESULTS OF A SINGLE CENTER STUDY Leuders S, Wolfgart E, van Teeffelen-Heithoff A, Vogelpohl L, Ott T, Weglage J, Marquardt T, Feldmann R, Rutsch F (2012) In: Journal of Inherited Metabolic Disease, 35 1. Research article (journal)
A novel type of macrothrombocytopenia associated with a defect in ?2,3-sialylation. Jones C, Denecke J, Sträter R, Stölting T, Schunicht Y, Zeuschner D, Klumperman J, Lefeber DJ, Spelten O, Zarbock A, Kelm S, Strenge K, Haslam SM, Lühn K, Stahl D, Gentile L, Schreiter T, Hilgard P, Beck-Sickinger AG, Marquardt T, Wild MK (2011) In: American Journal of Pathology, 179(4). Research article (journal)
A new glycosylation deficiency syndrome Wild MK, Denecke J, Straeter R, Stoelting T, Schunicht Y, Zeuschner D, Klumperman J, Lefeber D, Spelten O, Zarbock A, Kelm S, Strenge K, Haslam S, Luehn K, Stahl D, Gentile L, Schreiter T, Hilgard P, Beck-Sickinger AG, Marquardt T (2011) In: Journal of Vascular Research, 48 1. Research article (journal)
Pseudodeficiency of glutamine in infant liver disease. Vermeulen T, Marquardt T, Häberle J (2009) In: Amino Acids, 37(2). Research article (journal)
Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? Denecke J, Marquardt T (2009) In: BBA - Molecular Basis of Disease, 1792(9). Research article (journal)
Leukocytes and platelets in human disorders of fucosylation and sialylation Yakubenia S, Jones C, Frommhold D, Denecke J, Hellbusch C, Korner C, Schreiter T, Hilgard P, Marquardt T, Sperandio M, Wild MK (2009) In: European Journal of Clinical Investigation, 39 Suppl.. Research article (journal)