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Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D. Li Y, et al. Among authors: klaudel dreszler m. Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):970-975. doi: 10.1073/pnas.1813582116. Epub 2018 Dec 27. Proc Natl Acad Sci U S A. 2019. PMID: 30591564 Free PMC article.
Diagnosing Acute Cellular Rejection after Paediatric Liver Transplantation-Is There Room for Interleukin Profiles?
Goldschmidt I, Chichelnitskiy E, Rübsamen N, Jaeger VK, Karch A, D'Antiga L, Di Giorgio A, Nicastro E, Kelly DA, McLin V, Korff S, Debray D, Girard M, Hierro L, Klaudel-Dreszler M, Markiewicz-Kijewska M, Falk C, Baumann U. Goldschmidt I, et al. Among authors: klaudel dreszler m. Children (Basel). 2023 Jan 7;10(1):128. doi: 10.3390/children10010128. Children (Basel). 2023. PMID: 36670678 Free PMC article.
Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa.
Santos Silva E, Klaudel-Dreszler M, Bakuła A, Oliva T, Sousa T, Fernandes PC, Tylki-Szymańska A, Kamenets E, Martins E, Socha P. Santos Silva E, et al. Clin Res Hepatol Gastroenterol. 2018 Oct;42(5):e77-e82. doi: 10.1016/j.clinre.2018.03.012. Epub 2018 Apr 26. Clin Res Hepatol Gastroenterol. 2018. PMID: 29705274
Somatic development in children with Shwachman-Diamond syndrome.
Bogusz-Wójcik A, Kołodziejczyk H, Klaudel-Dreszler M, Oracz G, Pawłowska J, Szalecki M. Bogusz-Wójcik A, et al. Among authors: klaudel dreszler m. Ital J Pediatr. 2020 Oct 12;46(1):151. doi: 10.1186/s13052-020-00919-z. Ital J Pediatr. 2020. PMID: 33046118 Free PMC article.
Endocrine dysfunction in children with Shwachman-Diamond syndrome.
Bogusz-Wójcik A, Kołodziejczyk H, Moszczyńska E, Klaudel-Dreszler M, Oracz G, Pawłowska J, Szalecki M. Bogusz-Wójcik A, et al. Among authors: klaudel dreszler m. Endokrynol Pol. 2021;72(3):211-216. doi: 10.5603/EP.a2021.0014. Epub 2021 Feb 23. Endokrynol Pol. 2021. PMID: 33619711 Free article.
Common variable immune deficiency in children--clinical characteristics varies depending on defect in peripheral B cell maturation.
Piątosa B, Pac M, Siewiera K, Pietrucha B, Klaudel-Dreszler M, Heropolitańska-Pliszka E, Wolska-Kuśnierz B, Dmeńska H, Gregorek H, Sokolnicka I, Rękawek A, Tkaczyk K, Bernatowska E. Piątosa B, et al. J Clin Immunol. 2013 May;33(4):731-41. doi: 10.1007/s10875-013-9875-4. Epub 2013 Feb 7. J Clin Immunol. 2013. PMID: 23389235 Free PMC article.
Growth hormone improves short stature in children with Shwachman-Diamond syndrome.
Bogusz-Wójcik A, Kołodziejczyk H, Moszczyńska E, Klaudel-Dreszler M, Oracz G, Pawłowska J, Szalecki M. Bogusz-Wójcik A, et al. Among authors: klaudel dreszler m. Pediatr Endocrinol Diabetes Metab. 2021;27(2):87-92. doi: 10.5114/pedm.2021.105298. Pediatr Endocrinol Diabetes Metab. 2021. PMID: 33878854 Free PMC article.
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