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Page 1
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
Sitaram S, Banka HC, Vassallo G, Pavaine J, Fairclough A, Wright R, Fairbanks L, Bierau J, Bowden L, Schwahn B, Horman A, Banka S. Sitaram S, et al. Among authors: schwahn b. Am J Med Genet A. 2023 Jan;191(1):234-237. doi: 10.1002/ajmg.a.62999. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271826 Free PMC article.
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, Urquhart J, Broomfield A, Morris AA, Jameson E, Schwahn BC, Walter JH, Douzgou S, Murphy H, Hendriksz C, Sharma R, Wilcox G, Crushell E, Monavari AA, Martin R, Doolan A, Senniappan S, Ramsden SC, Jones SA, Banka S. Ghosh A, et al. Arch Dis Child. 2017 Nov;102(11):1019-1029. doi: 10.1136/archdischild-2017-312738. Epub 2017 May 3. Arch Dis Child. 2017. PMID: 28468868
Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N. Spiegel R, et al. Among authors: schwahn bc. J Inherit Metab Dis. 2022 May;45(3):456-469. doi: 10.1002/jimd.12488. Epub 2022 Mar 3. J Inherit Metab Dis. 2022. PMID: 35192225 Free PMC article.
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.
Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Broomfield A, et al. Among authors: schwahn b. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30. Mol Genet Metab. 2020. PMID: 31383595
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.
Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. Zwickler T, et al. Among authors: schwahn b. J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2. Epub 2008 May 27. J Inherit Metab Dis. 2008. PMID: 18563634
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
Schwahn BC, Van Spronsen FJ, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, Hennermann JB, Jameson E, König K, McGregor TL, Font-Montgomery E, Santamaria-Araujo JA, Santra S, Vaidya M, Vierzig A, Wassmer E, Weis I, Wong FY, Veldman A, Schwarz G. Schwahn BC, et al. Lancet. 2015 Nov 14;386(10007):1955-1963. doi: 10.1016/S0140-6736(15)00124-5. Epub 2015 Sep 3. Lancet. 2015. PMID: 26343839
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium. Kožich V, et al. J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28. J Inherit Metab Dis. 2021. PMID: 33295057 Free PMC article.
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: schwahn b. Pediatr Res. 2006 Jun;59(6):840-7. doi: 10.1203/01.pdr.0000219387.79887.86. Epub 2006 Apr 26. Pediatr Res. 2006. PMID: 16641220
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Hörster F, et al. Among authors: schwahn b. J Inherit Metab Dis. 2009 Oct;32(5):630. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642010
74 results