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Page 1
Carrier testing for spinal muscular atrophy.
Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR. Gitlin JM, et al. Among authors: howell rr. Genet Med. 2010 Oct;12(10):621-2. doi: 10.1097/GIM.0b013e3181ef6079. Genet Med. 2010. PMID: 20808230 Free PMC article.
Including ELSI research questions in newborn screening pilot studies.
Goldenberg AJ, Lloyd-Puryear M, Brosco JP, Therrell B, Bush L, Berry S, Brower A, Bonhomme N, Bowdish B, Chrysler D, Clarke A, Crawford T, Goldman E, Hiner S, Howell RR, Orren D, Wilfond BS, Watson M; Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network. Goldenberg AJ, et al. Among authors: howell rr. Genet Med. 2019 Mar;21(3):525-533. doi: 10.1038/s41436-018-0101-x. Epub 2018 Aug 13. Genet Med. 2019. PMID: 30100612 Free article.
Pompe disease diagnosis and management guideline.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Kishnani PS, et al. Among authors: howell rr. Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3. Genet Med. 2006. PMID: 16702877 Free PMC article. No abstract available.
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.
Camp KM, Lloyd-Puryear MA, Yao L, Groft SC, Parisi MA, Mulberg A, Gopal-Srivastava R, Cederbaum S, Enns GM, Ershow AG, Frazier DM, Gohagan J, Harding C, Howell RR, Regan K, Stacpoole PW, Venditti C, Vockley J, Watson M, Coates PM. Camp KM, et al. Among authors: howell rr. Mol Genet Metab. 2013 Aug;109(4):319-28. doi: 10.1016/j.ymgme.2013.05.008. Epub 2013 May 23. Mol Genet Metab. 2013. PMID: 23806236 Free PMC article.
The Progress and Future of US Newborn Screening.
Watson MS, Lloyd-Puryear MA, Howell RR. Watson MS, et al. Among authors: howell rr. Int J Neonatal Screen. 2022 Jul 18;8(3):41. doi: 10.3390/ijns8030041. Int J Neonatal Screen. 2022. PMID: 35892471 Free PMC article. Review.
Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.
Kemper AR, Boyle CA, Aceves J, Dougherty D, Figge J, Fisch JL, Hinman AR, Greene CL, Kus CA, Miller J, Robertson D, Telfair J, Therrell B, Lloyd-Puryear M, van Dyck PC, Howell RR. Kemper AR, et al. Among authors: howell rr. Genet Med. 2008 Apr;10(4):259-61. doi: 10.1097/GIM.0b013e31816b64f9. Genet Med. 2008. PMID: 18414208 Free article.
144 results