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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Huang Y, Sharma R, Feigenbaum A, Lee C, Sahai I, Sanchez Russo R, Neira J, Brooks SS, Jackson KE, Wong D, Cederbaum S, Lacbawan FL, Rowland CM, Tanpaiboon P, Salazar D. Huang Y, et al. Mol Genet Metab Rep. 2021 Mar 3;27:100735. doi: 10.1016/j.ymgmr.2021.100735. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33732618 Free PMC article.
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Schymick J, Leahy P, Cowan T, Ruzhnikov MRZ, Gates R, Fernandez L, Pramanik G; Undiagnosed Diseases Network; Yarlagadda V, Wheeler M, Bernstein JA, Enns GM, Lee C. Schymick J, et al. Am J Med Genet A. 2022 Feb;188(2):473-487. doi: 10.1002/ajmg.a.62543. Epub 2021 Oct 19. Am J Med Genet A. 2022. PMID: 34668327 Review.
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
Mistry P, Balwani M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, Weinreb N, Sidransky E. Mistry P, et al. Among authors: lee cu. Mol Genet Metab. 2020 Jul;130(3):164-169. doi: 10.1016/j.ymgme.2020.05.002. Epub 2020 May 11. Mol Genet Metab. 2020. PMID: 32471800 Free PMC article. No abstract available.
302 results