The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
- Julien H Park, Ulrika Nordström, Konstantinos Tsiakas, …, Thorsten Marquardt, Stefan L Marklund, Peter M Andersen
- Brain, 10.1093/braincomms/fcad017
Treatment Options in Congenital Disorders of Glycosylation
- Julien H Park, Thorsten Marquardt
- None, 10.3389/fgene.2021.735348
Mannose supplementation in PMM2-CDG
- Roman Taday, Julien H Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt
- Orphanet J Rare Dis, 10.1186/s13023-021-01988-x
L-Fucose treatment of FUT8-CDG
- Julien H Park, Janine Reunert, Miao He, …, Richard D Cummings, Oliver Schwartz, Thorsten Marquardt
- Mol Genet Metab, 10.1016/j.ymgmr.2020.100680
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
- Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, …, Robin Lachmann, Yoshinao Wada, Thomas Engel
- Mol Genet Metab, 10.1016/j.ymgmr.2020.100636
The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation
- Robert G Mealer, Bruce G Jenkins, Chia-Yen Chen, …, Richard D Cummings, Edward M Scolnick, Jordan W Smoller
- Sci Rep, 10.1038/s41598-020-70108-9
Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine
- Simone Linden, Sabrina Klank, Erik Harms, Marianne Grüneberg, Julien H Park, Thorsten Marquardt
- Mol Genet Metab, 10.1016/j.ymgmr.2020.100620
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
- Julien H Park, Jiraporn Ousingsawat, Inês Cabrita, …, Rainer Schreiber, Karl Kunzelmann, Thorsten Marquardt
- J Med Genet, 10.1136/jmedgenet-2020-106978
Reply: Not every excessive startle is hyperekplexia, the curious case of SOD1
- Julien H Park, Christiane Elpers, Thorsten Marquardt
- Brain, 10.1093/brain/awz416
Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants
- Kira Süßmuth, Dieter Metze, Ana-Maria Muresan, …, Thorsten Marquardt, Vinzenz Oji, Tobias Goerge
- Acta Derm Venereol, 10.2340/00015555-3324
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis
- Julien H Park, Christiane Elpers, Janine Reunert, …, Eugen Boltshauser, Douglas R Spitz, Thorsten Marquardt
- Brain, 10.1093/brain/awz182
Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples
- Anna B Wolking, Julien H Park, Marianne Grüneberg, …, Ralph Fingerhut, Manfred Fobker, Thorsten Marquardt
- J Chromatogr B Analyt Technol Biomed Life Sci, 10.1016/j.jchromb.2019.01.004
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
- Maria A Rujano, Magda Cannata Serio, Ganna Panasyuk, …, Gert Matthijs, Thorsten Marquardt, Matias Simons
- J Exp Med, 10.1084/jem.20170453
Limitations of galactose therapy in phosphoglucomutase 1 deficiency
- Kristine Nolting, Julien H Park, Laura C Tegtmeyer, …, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
- Mol Genet Metab, 10.1016/j.ymgmr.2017.07.010
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy
- Julien H Park, Max Hogrebe, Manfred Fobker, …, René Santer, Marianne Grüneberg, Thorsten Marquardt
- Genet Med, 10.1038/gim.2017.106