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Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
Kölker S, Garbade SF, Boy N, Maier EM, Meissner T, Mühlhausen C, Hennermann JB, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: haller w. Pediatr Res. 2007 Sep;62(3):357-63. doi: 10.1203/PDR.0b013e318137a124. Pediatr Res. 2007. PMID: 17622945
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
Smits P, Antonicka H, van Hasselt PM, Weraarpachai W, Haller W, Schreurs M, Venselaar H, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Smits P, et al. Among authors: haller w. Eur J Hum Genet. 2011 Mar;19(3):275-9. doi: 10.1038/ejhg.2010.208. Epub 2010 Dec 1. Eur J Hum Genet. 2011. PMID: 21119709 Free PMC article.
Long term outcomes in children with trichohepatoenteric syndrome.
Lee KY, Bremner R, Hartley J, Protheroe S, Haller W, Johnson T, Whyte L. Lee KY, et al. Among authors: haller w. Am J Med Genet A. 2024 Feb;194(2):141-149. doi: 10.1002/ajmg.a.63409. Epub 2023 Sep 27. Am J Med Genet A. 2024. PMID: 37753667
Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.
Williams I, Pandey S, Haller W, Huynh HQ, Chan A, Düeker G, Bettels R, Peyrin-Biroulet L, Dike CR, DeGeeter C, Smith D, Al Eisa N, Platt N, Marquardt T, Schwerd T, Platt FM, Uhlig HH. Williams I, et al. Among authors: haller w. Wellcome Open Res. 2022 Jan 11;7:11. doi: 10.12688/wellcomeopenres.16986.1. eCollection 2022. Wellcome Open Res. 2022. PMID: 35694196 Free PMC article.
An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease.
Bolton C, Smillie CS, Pandey S, Elmentaite R, Wei G, Argmann C, Aschenbrenner D, James KR, McGovern DPB, Macchi M, Cho J, Shouval DS, Kammermeier J, Koletzko S, Bagalopal K, Capitani M, Cavounidis A, Pires E, Weidinger C, McCullagh J, Arkwright PD, Haller W, Siegmund B, Peters L, Jostins L, Travis SPL, Anderson CA, Snapper S, Klein C, Schadt E, Zilbauer M, Xavier R, Teichmann S, Muise AM, Regev A, Uhlig HH. Bolton C, et al. Among authors: haller w. Gastroenterology. 2022 Mar;162(3):859-876. doi: 10.1053/j.gastro.2021.11.014. Epub 2021 Nov 13. Gastroenterology. 2022. PMID: 34780721 Free PMC article.
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.
Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP, Modis Y, Alazami AM, Acres M, Haller W, Bowen C, Döffinger R, Sinclair J, Brothers S, Zhang Y, Matthews HF, Naudion S, Pelluard F, Alajlan H, Yamazaki Y, Notarangelo LD, Thaventhiran JE, Engelhardt KR, Al-Mousa H, Hambleton S, Rooryck C, Smith KGC, Lenardo MJ. Zhang Z, et al. Among authors: haller w. J Exp Med. 2019 Jun 3;216(6):1311-1327. doi: 10.1084/jem.20182304. Epub 2019 Apr 30. J Exp Med. 2019. PMID: 31040185 Free PMC article.
Hepatic Lesions Associated With McCune Albright Syndrome.
Johansen L, Haller W, Thyagarajan M, Kelly D, McKiernan P. Johansen L, et al. Among authors: haller w. J Pediatr Gastroenterol Nutr. 2019 Apr;68(4):e54-e57. doi: 10.1097/MPG.0000000000002266. J Pediatr Gastroenterol Nutr. 2019. PMID: 30628989
76 results