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Page 1
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. Alston CL, et al. Among authors: monavari aa. J Med Genet. 2016 Sep;53(9):634-41. doi: 10.1136/jmedgenet-2015-103576. Epub 2016 Apr 18. J Med Genet. 2016. PMID: 27091925 Free PMC article.
Type 1 Tyrosinaemia.
Mannion MA, Smith A, Mayne P, Monavari AA. Mannion MA, et al. Among authors: monavari aa. Ir Med J. 2016 Jun 10;109(6):426. Ir Med J. 2016. PMID: 27814443
Efficacy and Safety of a Biosimilar Liraglutide (Melitide®) Versus the Reference Liraglutide (Victoza®) in People with Type 2 Diabetes Mellitus: A Randomized, Double-Blind, Noninferiority Clinical Trial.
Esteghamati A, Zamanzadeh M, Malek M, Khaledi M, Monavari A, Najafi L, Banazadeh Z, Malboosbaf R, Aghili R, Mahdikhah S, Ganjizadeh-Zavereh H, Kafi H, Hosseinpanah F, Khamseh ME. Esteghamati A, et al. Among authors: monavari a. Diabetes Ther. 2023 Nov;14(11):1889-1902. doi: 10.1007/s13300-023-01462-w. Epub 2023 Sep 14. Diabetes Ther. 2023. PMID: 37707701 Free PMC article.
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
O'Reilly D, Crushell E, Hughes J, Ryan S, Rogers Y, Borovickova I, Mayne P, Riordan M, Awan A, Carson K, Hunter K, Lynch B, Shahwan A, Rüfenacht V, Häberle J, Treacy EP, Monavari AA, Knerr I. O'Reilly D, et al. Among authors: monavari aa. J Inherit Metab Dis. 2021 May;44(3):639-655. doi: 10.1002/jimd.12337. Epub 2020 Dec 20. J Inherit Metab Dis. 2021. PMID: 33300147
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.
N-glycan abnormalities in children with galactosemia.
Coss KP, Hawkes CP, Adamczyk B, Stöckmann H, Crushell E, Saldova R, Knerr I, Rubio-Gozalbo ME, Monavari AA, Rudd PM, Treacy EP. Coss KP, et al. Among authors: monavari aa. J Proteome Res. 2014 Feb 7;13(2):385-94. doi: 10.1021/pr4008305. Epub 2013 Dec 20. J Proteome Res. 2014. PMID: 24359113
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