A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach
Dörre, K., Olczak, M., Wada, Y., Sosicka, P., Grüneberg, M., Reunert, J., Kurlemann, G., Fiedler, B., Biskup, S., Hörtnagel, K., Rust, S., Marquardt, T.
Published in Journal of inherited metabolic disease (01.09.2015)
Published in Journal of inherited metabolic disease (01.09.2015)
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Journal Article
Refining the dermatological spectrum in primary immunodeficiency: mucosa‐associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes
Wiegmann, H., Reunert, J., Metze, D., Marquardt, T., Engel, T., Kunde, V., Ehl, S., Foell, D., Heuvel, I., Oji, V., Wittkowski, H.
Published in British journal of dermatology (1951) (01.01.2020)
Published in British journal of dermatology (1951) (01.01.2020)
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Journal Article
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation
Gödiker, J, Grüneberg, M, DuChesne, I, Reunert, J, Rust, S, Westermann, C, Wada, Y, Classen, G, Langhans, C D, Schlingmann, K P, Rodenburg, R J, Pohlmann, R, Marquardt, T
Published in Journal of human genetics (01.06.2018)
Published in Journal of human genetics (01.06.2018)
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Journal Article
ALG1-CDG: A new case with early fatal outcome
Rohlfing, A.-K., Rust, S., Reunert, J., Tirre, M., Du Chesne, I., Wemhoff, Sa, Meinhardt, F., Hartmann, H., Das, A.M., Marquardt, T.
Published in Gene (25.01.2014)
Published in Gene (25.01.2014)
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Journal Article
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease
Würde, A.E., Reunert, J., Rust, S., Hertzberg, C., Haverkämper, S., Nürnberg, G., Nürnberg, P., Lehle, L., Rossi, R., Marquardt, T.
Published in Molecular genetics and metabolism (01.04.2012)
Published in Molecular genetics and metabolism (01.04.2012)
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Journal Article
Life with too much polyprenol: polyprenol reductase deficiency
Gründahl, J.E.H., Guan, Z., Rust, S., Reunert, J., Müller, B., Du Chesne, I., Zerres, K., Rudnik-Schöneborn, S., Ortiz-Brüchle, N., Häusler, M.G., Siedlecka, J., Swiezewska, E., Raetz, C.R.H., Marquardt, T.
Published in Molecular genetics and metabolism (01.04.2012)
Published in Molecular genetics and metabolism (01.04.2012)
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Journal Article
TMEM165 Deficiency: Postnatal Changes in Glycosylation
Schulte Althoff, S., Grüneberg, M., Reunert, J., Park, J. H., Rust, S., Mühlhausen, C., Wada, Y., Santer, R., Marquardt, T.
Published in JIMD Reports, Volume 26 (01.01.2016)
Published in JIMD Reports, Volume 26 (01.01.2016)
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Book Chapter
Journal Article
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype
Reunert, J., Lotz-Havla, A. S., Polo, G., Kannenberg, F., Fobker, M., Griese, M., Mengel, E., Muntau, A. C., Schnabel, P., Sommerburg, O., Borggraefe, I., Dardis, A., Burlina, A. P., Mall, M. A., Ciana, G., Bembi, B., Burlina, A. B., Marquardt, T.
Published in JIMD Reports, Volume 23 (2015)
Published in JIMD Reports, Volume 23 (2015)
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Book Chapter
Journal Article
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
Rujano, Maria A, Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H, Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M, Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J, Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D, Raskind, Wendy H, Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
Published in The Journal of experimental medicine (04.12.2017)
Published in The Journal of experimental medicine (04.12.2017)
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Journal Article