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Page 1
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.
Pompe disease in infants and children.
Kishnani PS, Howell RR. Kishnani PS, et al. Among authors: howell rr. J Pediatr. 2004 May;144(5 Suppl):S35-43. doi: 10.1016/j.jpeds.2004.01.053. J Pediatr. 2004. PMID: 15126982 Review. No abstract available.
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.
A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and children.
Kemper AR, Trotter TL, Lloyd-Puryear MA, Kyler P, Feero WG, Howell RR. Kemper AR, et al. Among authors: howell rr. Genet Med. 2010 Feb;12(2):77-80. doi: 10.1097/GIM.0b013e3181cb78fa. Genet Med. 2010. PMID: 20084011 Free article.
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.
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.
Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children.
Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C, Watson M, Trotter T, Terry SF, Howell RR; Advisory Committee on Heritable Disorders in Newborns and Children. Calonge N, et al. Among authors: howell rr. Genet Med. 2010 Mar;12(3):153-9. doi: 10.1097/GIM.0b013e3181d2af04. Genet Med. 2010. PMID: 20154628 Free article.
144 results