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Page 1
Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need.
Berry SA, Brown CS, Greene C, Camp KM, McDonough S, Bocchini JA Jr; Follow-up and Treatment (FUTR) Workgroup for the Advisory Committee on Heritable Disorders in Newborns and Children. Berry SA, et al. Among authors: brown cs. Pediatrics. 2020 Mar;145(3):e20192261. doi: 10.1542/peds.2019-2261. Epub 2020 Feb 7. Pediatrics. 2020. PMID: 32034080
Newborn screening 50 years later: access issues faced by adults with PKU.
Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, Moseley K, Suter R, van Calcar SC, Wiles J, Cederbaum S. Berry SA, et al. Genet Med. 2013 Aug;15(8):591-9. doi: 10.1038/gim.2013.10. Epub 2013 Mar 7. Genet Med. 2013. PMID: 23470838 Free PMC article. Review.
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Camp KM, et al. Among authors: brown cs. Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6. Mol Genet Metab. 2014. PMID: 24667081
A framework for assessing outcomes from newborn screening: on the road to measuring its promise.
Hinton CF, Homer CJ, Thompson AA, Williams A, Hassell KL, Feuchtbaum L, Berry SA, Comeau AM, Therrell BL, Brower A, Harris KB, Brown C, Monaco J, Ostrander RJ, Zuckerman AE, Kaye C, Dougherty D, Greene C, Green NS; Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). Hinton CF, et al. Mol Genet Metab. 2016 Aug;118(4):221-9. doi: 10.1016/j.ymgme.2016.05.017. Epub 2016 May 31. Mol Genet Metab. 2016. PMID: 27268406 Free PMC article.
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Smith WE, Berry SA, Bloom K, Brown C, Burton BK, Demarest OM, Jenkins GP, Malinowski J, McBride KL, Mroczkowski HJ, Scharfe C, Vockley J; ACMG Board of Directors. Electronic address: [email protected]. Smith WE, et al. Genet Med. 2025 Jan;27(1):101289. doi: 10.1016/j.gim.2024.101289. Epub 2024 Dec 4. Genet Med. 2025. PMID: 39630157
Family reflections on phenylketonuria.
Brown CS. Brown CS. Pediatr Res. 2018 Dec;84(6):797-798. doi: 10.1038/s41390-018-0179-5. Epub 2018 Sep 13. Pediatr Res. 2018. PMID: 30254238 No abstract available.
Phenylketonuria (PKU): A problem solved?
Brown CS, Lichter-Konecki U. Brown CS, et al. Mol Genet Metab Rep. 2015 Dec 29;6:8-12. doi: 10.1016/j.ymgmr.2015.12.004. eCollection 2016 Mar. Mol Genet Metab Rep. 2015. PMID: 27014571 Free PMC article.
608 results