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mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Gurung S, Timmermand OV, Perocheau D, Gil-Martinez AL, Minnion M, Touramanidou L, Fang S, Messina M, Khalil Y, Spiewak J, Barber AR, Edwards RS, Pinto PL, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Ridout D, Heywood W, Hargreaves I, Heales S, Mills PB, Waddington SN, Gissen P, Eaton S, Ryten M, Feelisch M, Frassetto A, Witney TH, Baruteau J. Gurung S, et al. Among authors: mills pb. Sci Transl Med. 2024 Jan 10;16(729):eadh1334. doi: 10.1126/scitranslmed.adh1334. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198573 Free PMC article.
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors. Wortmann SB, et al. Among authors: mills pb. J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15. J Inherit Metab Dis. 2017. PMID: 28205048 Free PMC article.
A Randomized Controlled Trial of the Implementation of BREASTChoice , a Multilevel Breast Reconstruction Decision Support Tool With Personalized Risk Prediction.
Politi MC, Myckatyn TM, Cooksey K, Olsen MA, Smith RM, Foraker R, Parrish K, Phommasathit C, Brock G, Janse S, Guglielmino J, Peled A, Mills PB, Jackson S, Lee CN. Politi MC, et al. Among authors: mills pb. Ann Surg. 2024 May 27:10.1097/SLA.0000000000006354. doi: 10.1097/SLA.0000000000006354. Online ahead of print. Ann Surg. 2024. PMID: 38801247
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: mills pb. J Inherit Metab Dis. 2024 Nov;47(6):1213-1227. doi: 10.1002/jimd.12691. Epub 2023 Dec 4. J Inherit Metab Dis. 2024. PMID: 38044746 Free PMC article.
SLC39A14 Deficiency.
Tuschl K, Gregory A, Meyer E, Clayton PT, Hayflick SJ, Mills PB, Kurian MA. Tuschl K, et al. Among authors: mills pb. 2017 May 25 [updated 2022 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 May 25 [updated 2022 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 28541650 Free Books & Documents. Review.
Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
Papandreou A, Doykov I, Spiewak J, Komarov N, Habermann S, Kurian MA, Mills PB, Mills K, Gissen P, Heywood WE; Clinical cohort recruitment and characterization group. Papandreou A, et al. Among authors: mills pb. Dev Med Child Neurol. 2022 Dec;64(12):1539-1546. doi: 10.1111/dmcn.15334. Epub 2022 Jul 14. Dev Med Child Neurol. 2022. PMID: 35833379 Free PMC article.
83 results