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Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10.
Epilepsia. 2023.
PMID: 36994644
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Wilson MP, Footitt EJ, Papandreou A, Uudelepp ML, Pressler R, Stevenson DC, Gabriel C, McSweeney M, Baggot M, Burke D, Stödberg T, Riney K, Schiff M, Heales SJR, Mills KA, Gissen P, Clayton PT, Mills PB.
Wilson MP, et al. Among authors: uudelepp ml.
Anal Chem. 2017 Sep 5;89(17):8892-8900. doi: 10.1021/acs.analchem.7b01358. Epub 2017 Aug 17.
Anal Chem. 2017.
PMID: 28782931
Free PMC article.
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The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Gurung S, Karamched S, Perocheau D, Seunarine KK, Baldwin T, Alrashidi H, Touramanidou L, Duff C, Elkhateeb N, Stepien KM, Sharma R, Morris A, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Batzios S, Davison J, Footitt E, Tuschl K, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Frassetto A, Heales S, Mills PB, Gissen P, Clayden JD, Clark CA, Eaton S, Kalber TL, Baruteau J.
Gurung S, et al. Among authors: uudelepp ml.
J Inherit Metab Dis. 2023 Dec 4. doi: 10.1002/jimd.12691. Online ahead of print.
J Inherit Metab Dis. 2023.
PMID: 38044746
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Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.
Hirst L, Abou-Ameira G, Uudelepp ML.
Hirst L, et al. Among authors: uudelepp ml.
Case Rep Pediatr. 2021 Feb 16;2021:6611548. doi: 10.1155/2021/6611548. eCollection 2021.
Case Rep Pediatr. 2021.
PMID: 33643672
Free PMC article.
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Smoking-induced expression of the GPR15 gene indicates its potential role in chronic inflammatory pathologies.
Kõks G, Uudelepp ML, Limbach M, Peterson P, Reimann E, Kõks S.
Kõks G, et al. Among authors: uudelepp ml.
Am J Pathol. 2015 Nov;185(11):2898-906. doi: 10.1016/j.ajpath.2015.07.006. Epub 2015 Sep 6.
Am J Pathol. 2015.
PMID: 26348578
Free article.
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Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.
Joost K, Ounap K, Zordania R, Uudelepp ML, Olsen RK, Kall K, Kilk K, Soomets U, Kahre T.
Joost K, et al. Among authors: uudelepp ml.
JIMD Rep. 2012;2:79-85. doi: 10.1007/8904_2011_51. Epub 2011 Sep 6.
JIMD Rep. 2012.
PMID: 23430857
Free PMC article.
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Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.
Krabbi K, Uudelepp ML, Joost K, Zordania R, Õunap K.
Krabbi K, et al. Among authors: uudelepp ml.
Mol Genet Metab. 2011 Jul;103(3):249-53. doi: 10.1016/j.ymgme.2011.03.023. Epub 2011 Apr 2.
Mol Genet Metab. 2011.
PMID: 21501963
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