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387 results

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Page 1
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Seker Yilmaz B, Baruteau J, Chakrapani A, Champion M, Chronopoulou E, Claridge LC, Daly A, Davies C, Davison J, Dhawan A, Grunewald S, Gupte GL, Heaton N, Lemonde H, McKiernan P, Mills P, Morris AAM, Mundy H, Pierre G, Rajwal S, Sivananthan S, Sreekantam S, Stepien KM, Vara R, Yeo M, Gissen P. Seker Yilmaz B, et al. Among authors: grunewald s. Mol Genet Metab Rep. 2023 Nov 5;37:101020. doi: 10.1016/j.ymgmr.2023.101020. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053940 Free PMC article.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Elkhateeb N, Olivieri G, Siri B, Boyd S, Stepien KM, Sharma R, Morris AAM, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Bernhardt I, Sudakhar S, Chan A, Mills P, Ridout D, Gissen P, Dionisi-Vici C, Baruteau J. Elkhateeb N, et al. Among authors: grunewald s. Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10. Epilepsia. 2023. PMID: 36994644
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: grunewald s. 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.
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Kiparissi F, Dastamani A, Palm L, Azabdaftari A, Campos L, Gaynor E, Grünewald S, Uhlig HH, Kleta R, Böckenhauer D, Jones KDJ. Kiparissi F, et al. Among authors: grunewald s. Hum Genet. 2023 May;142(5):697-704. doi: 10.1007/s00439-023-02523-7. Epub 2023 Feb 11. Hum Genet. 2023. PMID: 36773065 Free PMC article.
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.
Vockley J, Burton BK, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman KA, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Rahman S, Ray K, Reineking B, Pisani L, Ramirez AN. Vockley J, et al. Among authors: grunewald s. J Inherit Metab Dis. 2023 Sep;46(5):943-955. doi: 10.1002/jimd.12640. Epub 2023 Jun 19. J Inherit Metab Dis. 2023. PMID: 37276053 Clinical Trial.
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V, Barone R, Grunewald S, Tesařová M, Hansíková H, Augustínová J, Sykut-Cegielska J, De Nictolis F, Diaz-Moreno U, Elangovan R, Epifani F, Gasperini S, Jansen M, Lefeber D, Maksym-Gasiorek D, Diego M, Ounap K, Pettinato F, Põder H, Rymen D, Vals MA, Serrano M, Witters P, Honzík T. Holubova V, et al. Among authors: grunewald s. J Inherit Metab Dis. 2025 Jan;48(1):e12826. doi: 10.1002/jimd.12826. Epub 2024 Dec 5. J Inherit Metab Dis. 2025. PMID: 39633515
Representation of images of black skin in pediatric textbooks.
Oliveira MED, Silva RGO, Clemente MMM, Grunewald STF. Oliveira MED, et al. Among authors: grunewald stf. An Bras Dermatol. 2024 Nov 27:S0365-0596(24)00228-9. doi: 10.1016/j.abd.2024.07.006. Online ahead of print. An Bras Dermatol. 2024. PMID: 39609152 Free article. No abstract available.
387 results