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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: barbouth d. 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.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
Patient management problem.
Barbouth DS, Weinreb NJ. Barbouth DS, et al. Continuum (Minneap Minn). 2011 Apr;17(2 Neurogenetics):402-6. doi: 10.1212/01.CON.0000396976.25756.74. Continuum (Minneap Minn). 2011. PMID: 22810831 No abstract available.
Patient management problem-preferred responses.
Barbouth DS, Weinreb NJ. Barbouth DS, et al. Continuum (Minneap Minn). 2011 Apr;17(2 Neurogenetics):407-16. doi: 10.1212/01.CON.0000396978.33380.6f. Continuum (Minneap Minn). 2011. PMID: 22810832
Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases.
Warsch JR, Warsch S, Herman E, Zakarin L, Schneider A, Hoffman J, Wasserman D, Barbouth D. Warsch JR, et al. Among authors: barbouth d. J Community Genet. 2014 Jul;5(3):223-31. doi: 10.1007/s12687-013-0179-4. Epub 2014 Jan 12. J Community Genet. 2014. PMID: 24415495 Free PMC article.
COVID-19 in a child with severe propionic acidemia.
Saad-Naguib M, Barbouth D, Thorson W, Hacker S, Tekin M. Saad-Naguib M, et al. Among authors: barbouth d. Pediatr Int. 2021 May;63(5):606-607. doi: 10.1111/ped.14633. Pediatr Int. 2021. PMID: 34002470 Free PMC article. No abstract available.
98 results