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beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Among authors: rutsch f. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. doi: 10.1093/hmg/ddh303. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385443
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study.
Hebestreit H, Zeidler C, Schippers C, de Zwaan M, Deckert J, Heuschmann P, Krauth C, Bullinger M, Berger A, Berneburg M, Brandstetter L, Deibele A, Dieris-Hirche J, Graessner H, Gündel H, Herpertz S, Heuft G, Lapstich AM, Lücke T, Maisch T, Mundlos C, Petermann-Meyer A, Müller S, Ott S, Pfister L, Quitmann J, Romanos M, Rutsch F, Schaubert K, Schubert K, Schulz JB, Schweiger S, Tüscher O, Ungethüm K, Wagner TOF, Haas K; ZSE-DUO working group. Hebestreit H, et al. Among authors: rutsch f. Orphanet J Rare Dis. 2022 Feb 14;17(1):47. doi: 10.1186/s13023-022-02176-1. Orphanet J Rare Dis. 2022. PMID: 35164804 Free PMC article.
Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Trefz KF, Muntau AC, Kohlscheen KM, Altevers J, Jacob C, Braun S, Greiner W, Jha A, Jain M, Alvarez I, Lane P, Schröder C, Rutsch F. Trefz KF, et al. Among authors: rutsch f. Orphanet J Rare Dis. 2019 Jul 22;14(1):181. doi: 10.1186/s13023-019-1153-y. Orphanet J Rare Dis. 2019. PMID: 31331350 Free PMC article.
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain.
Görlach J, Amsel D, Kölbel H, Grzybowsky M, Rutsch F, Schlierbach H, Vanlander A, Pogatzki-Zahn E, Habig K, Garkisch S, Müller V, Fritz T, Ziegler A, Hahn A, Krämer HH, Van Coster R, Schänzer A. Görlach J, et al. Among authors: rutsch f. Muscle Nerve. 2020 Feb;61(2):173-181. doi: 10.1002/mus.26766. Epub 2019 Dec 9. Muscle Nerve. 2020. PMID: 31749205
Mutations in CRLF1 cause familial achalasia.
Busch A, Žarković M, Lowe C, Jankofsky M, Ganschow R, Buers I, Kurth I, Reutter H, Rutsch F, Hübner CA. Busch A, et al. Among authors: rutsch f. Clin Genet. 2017 Jul;92(1):104-108. doi: 10.1111/cge.12953. Epub 2017 Mar 15. Clin Genet. 2017. PMID: 27976805
138 results