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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: borovickova i. 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
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.
Conlon TA, Fitzsimons PE, Borovickova I, Kirby F, Murphy S, Knerr I, Crushell E. Conlon TA, et al. Among authors: borovickova i. JIMD Rep. 2020 Jun 30;55(1):26-31. doi: 10.1002/jmd2.12146. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905056 Free PMC article.
Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.
Stepien KM, Pastores GM, Hendroff U, McCormick C, Fitzimons P, Khawaja N, Borovickova I, Treacy EP. Stepien KM, et al. Among authors: borovickova i. JIMD Rep. 2018;41:29-36. doi: 10.1007/8904_2017_81. Epub 2018 Jan 3. JIMD Rep. 2018. PMID: 29292490 Free PMC article.
Acute pseudogout - Measure serum magnesium.
Gama RM, Barkham N, Ward J, Gama R, Borovickova I. Gama RM, et al. Among authors: borovickova i. Ann Clin Biochem. 2019 May;56(3):411-414. doi: 10.1177/0004563219826169. Epub 2019 Feb 27. Ann Clin Biochem. 2019. PMID: 30813745
Hypophosphatasia.
Fenn JS, Lorde N, Ward JM, Borovickova I. Fenn JS, et al. Among authors: borovickova i. J Clin Pathol. 2021 Oct;74(10):635-640. doi: 10.1136/jclinpath-2021-207426. Epub 2021 Apr 30. J Clin Pathol. 2021. PMID: 33931563 Review.
Hypogonadism with Normal Serum Testosterone.
Borovickova I, Adelson N, Viswanath A, Gama R. Borovickova I, et al. Clin Chem. 2017 Aug;63(8):1326-1329. doi: 10.1373/clinchem.2016.265124. Clin Chem. 2017. PMID: 28751320 No abstract available.
14 results