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Page 1
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
Grünert SC, Müllerleile S, De Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Grünert SC, et al. Among authors: walter m, walter k. Orphanet J Rare Dis. 2013 Jan 10;8:6. doi: 10.1186/1750-1172-8-6. Orphanet J Rare Dis. 2013. PMID: 23305374 Free PMC article.
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fátima Turcato M, Lam CW, Reiss J, Walter M, Yalcinkaya C, Camelo Junior JS. Sass JO, et al. Among authors: walter m. Brain Dev. 2010 Aug;32(7):544-9. doi: 10.1016/j.braindev.2009.09.005. Epub 2009 Sep 29. Brain Dev. 2010. PMID: 19793632
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
Grünert SC, Foster W, Schumann A, Lund A, Pontes C, Roloff S, Weinhold N, Yue WW, AlAsmari A, Obaid OA, Faqeih EA, Stübbe L, Yamamoto R, Gemperle-Britschgi C, Walter M, Spiekerkoetter U, Mackinnon S, Sass JO. Grünert SC, et al. Among authors: walter m. Biochimie. 2021 Apr;183:55-62. doi: 10.1016/j.biochi.2021.02.003. Epub 2021 Feb 14. Biochimie. 2021. PMID: 33596448
Aminoacylase 1 deficiency associated with autistic behavior.
Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A. Tylki-Szymanska A, et al. Among authors: walter m. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S211-4. doi: 10.1007/s10545-010-9089-3. Epub 2010 May 18. J Inherit Metab Dis. 2010. PMID: 20480396
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Sass JO, et al. Among authors: walter m. Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27477828
Transdiagnostic alterations in white matter microstructure associated with suicidal thoughts and behaviours in the ENIGMA Suicidal Thoughts and Behaviours consortium.
van Velzen LS, Colic L, Ceja Z, Dauvermann MR, Villa LM, Savage HS, Toenders YJ, Dehestani N, Zhu AH, Campos AI, Salminen LE, Agartz I, Alexander N, Ayesa-Arriola R, Ballard ED, Banaj N, Barkhau C, Başgöze Z, Bauer J, Benedetti F, Berger K, Besteher B, Brosch K, Canal-Rivero M, Cervenka S, Colle R, Connolly CG, Corruble E, Courtet P, Couvy-Duchesne B, Crespo-Facorro B, Cullen KR, Dannlowski U, Deverdun J, Diaz-Zuluaga AM, Dietze LMF, Evans JW, Fani N, Flinkenflügel K, Friedman NP, Gotlib IH, Groenewold NA, Grotegerd D, Hajek T, Hatoum AS, Hermesdorf M, Hickie IB, Hirano Y, Ho TC, Ikemizu Y, Iorfino F, Ipser JC, Isobe Y, Jackowski AP, Jollant F, Kircher T, Klug M, Koopowitz SM, Kraus A, Krug A, Bars EL, Leehr EJ, Li M, Lippard ETC, Lopez-Jaramillo C, Maximov II, McIntosh AM, McLaughlin KA, McWhinney SR, Meinert S, Melloni E, Mitchell PB, Mwangi B, Nenadić I, Nerland S, Olie E, Ortiz-García de la Foz V, Pan PM, Pereira F, Piras F, Piras F, Poletti S, Reineberg AE, Roberts G, Romero-García R, Sacchet MD, Salum GA, Sandu AL, Sellgren CM, Shimizu E, Smolker HR, Soares JC, Spalletta G, Steele JD, Stein F, Stein DJ, Straube B, Teutenberg L, Thomas-Odenthal F, Usemann P, Valabregue R, Val… See abstract for full author list ➔ van Velzen LS, et al. Among authors: walter m. medRxiv [Preprint]. 2024 Nov 7:2024.11.07.24316876. doi: 10.1101/2024.11.07.24316876. medRxiv. 2024. PMID: 39802789 Free PMC article. Preprint.
2,868 results