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Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Forny P, Footitt E, Davison JE, Lam A, Woodward CE, Batzios S, Bhate S, Chakrapani A, Cleary M, Gissen P, Grunewald S, Hurst JA, Scott R, Heales S, Jacques TS, Cullup T, Rahman S. Forny P, et al. Among authors: batzios s. Neurol Genet. 2021 May 25;7(3):e597. doi: 10.1212/NXG.0000000000000597. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34056100 Free PMC article.
Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1.
Sotiridou E, Hoermann H, Aftab S, Dastamani A, Thimm E, Doodson L, Batzios S, Kummer S, Shah P. Sotiridou E, et al. Among authors: batzios s. Endocrinol Diabetes Metab Case Rep. 2021 Jan 11;2021:20-0174. doi: 10.1530/EDM-20-0174. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2021. PMID: 33431709 Free PMC article.
Neuroimaging Features of Biotinidase Deficiency.
Biswas A, McNamara C, Gowda VK, Gala F, Sudhakar S, Sidpra J, Vari MS, Striano P, Blaser S, Severino M, Batzios S, Mankad K. Biswas A, et al. Among authors: batzios s. AJNR Am J Neuroradiol. 2023 Mar;44(3):328-333. doi: 10.3174/ajnr.A7781. Epub 2023 Feb 9. AJNR Am J Neuroradiol. 2023. PMID: 36759144 Free PMC article.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
Diaz GA, Schulze A, McNutt MC, Leão-Teles E, Merritt JL 2nd, Enns GM, Batzios S, Bannick A, Zori RT, Sloan LS, Potts SL, Bubb G, Quinn AG. Diaz GA, et al. Among authors: batzios s. J Inherit Metab Dis. 2021 Jul;44(4):847-856. doi: 10.1002/jimd.12343. Epub 2021 Jan 26. J Inherit Metab Dis. 2021. PMID: 33325055 Free PMC article. Clinical Trial.
42 results