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Items: 1 to 20 of 200

1.

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.

Mol Genet Metab. 2013 Aug;109(4):319-28. doi: 10.1016/j.ymgme.2013.05.008. Epub 2013 May 23.

2.

Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.

Therrell BL Jr, Lloyd-Puryear MA, Camp KM, Mann MY.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):14-26. doi: 10.1016/j.ymgme.2014.07.009. Epub 2014 Jul 16. Review.

3.

Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example.

Camp KM, Lloyd-Puryear MA, Huntington KL.

Mol Genet Metab. 2012 Sep;107(1-2):3-9. doi: 10.1016/j.ymgme.2012.07.005. Epub 2012 Jul 16. Review.

4.

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.

Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6.

PMID:
24667081
5.

Developing treatments for inborn errors: incentives available to the clinician.

Haffner ME.

Mol Genet Metab. 2004 Apr;81 Suppl 1:S63-6.

PMID:
15050976
7.

Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.

Potter BK, Chakraborty P, Kronick JB, Wilson K, Coyle D, Feigenbaum A, Geraghty MT, Karaceper MD, Little J, Mhanni A, Mitchell JJ, Siriwardena K, Wilson BJ, Syrowatka A; Canadian Inherited Metabolic Diseases Research Network.

Genet Med. 2013 Jun;15(6):415-22. doi: 10.1038/gim.2012.153. Epub 2012 Dec 6. Review.

8.

Nutrition in the management of inborn errors of metabolism.

Dashman T, Sansaricq C.

Clin Lab Med. 1993 Jun;13(2):407-32. Review. Erratum in: Clin Lab Med 1993 Dec;13(4):followi.

PMID:
8319427
9.

Inborn errors of metabolism and expanded newborn screening: review and update.

Mak CM, Lee HC, Chan AY, Lam CW.

Crit Rev Clin Lab Sci. 2013 Nov;50(6):142-62. doi: 10.3109/10408363.2013.847896. Review.

PMID:
24295058
10.

Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review.

Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S.

Health Technol Assess. 2004 Mar;8(12):iii, 1-121. Review.

11.

Long-term follow-up of newborn screening patients.

Berry SA, Lloyd-Puryear MA, Watson MS.

Genet Med. 2010 Dec;12(12 Suppl):S267-8. doi: 10.1097/GIM.0b013e3181fea476.

PMID:
21150374
12.

New ways of defining protein and energy relationships in inborn errors of metabolism.

Humphrey M, Truby H, Boneh A.

Mol Genet Metab. 2014 Aug;112(4):247-58. doi: 10.1016/j.ymgme.2014.05.008. Epub 2014 May 22. Review.

PMID:
24916709
13.

Nutritional therapy for selected inborn errors of metabolism.

Levy HL.

J Am Coll Nutr. 1989;8 Suppl:54S-60S. Review.

PMID:
2681328
14.

Perspectives on dietary adherence among women with inborn errors of metabolism.

Kemper AR, Brewer CA, Singh RH.

J Am Diet Assoc. 2010 Feb;110(2):247-52. doi: 10.1016/j.jada.2009.10.030.

PMID:
20102852
15.

Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

Centers for Disease Control and Prevention (CDC).

MMWR Recomm Rep. 2012 Apr 6;61(RR-2):1-44.

16.
17.

In the midst of confusion lies opportunity: fostering quality science in dietary supplement research.

Costello RB, Coates P.

J Am Coll Nutr. 2001 Feb;20(1):21-5. Review.

PMID:
11293464
18.

An introduction to nutritional treatment in inborn errors of metabolism--different disorders, different approaches.

Wilcken B.

Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:198-201.

PMID:
15906735
19.

Dietary supplement research portfolio at the NIH, 2009-2011.

Garcia-Cazarin ML, Wambogo EA, Regan KS, Davis CD.

J Nutr. 2014 Apr;144(4):414-8. doi: 10.3945/jn.113.189803. Epub 2014 Feb 12.

20.

Newborn screening for inborn errors of metabolism: a systematic review.

Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, Littlejohns P, Lord J, Wilcox AH.

Health Technol Assess. 1997;1(11):i-iv, 1-95. Review.

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