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Items: 1 to 20 of 37

1.

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.

2.

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.

3.

Neonatal screening for inborn errors of metabolism: cost, yield and outcome.

Pollitt RJ, Green A, McCabe CJ, Booth A, Cooper NJ, Leonard JV, Nicholl J, Nicholson P, Tunaley JR, Virdi NK.

Health Technol Assess. 1997;1(7):i-iv, 1-202. Review.

4.

Inborn errors of metabolism in infancy and early childhood: an update.

Raghuveer TS, Garg U, Graf WD.

Am Fam Physician. 2006 Jun 1;73(11):1981-90. Review.

5.

Isolated neonatal seizures: when to suspect inborn errors of metabolism.

Ficicioglu C, Bearden D.

Pediatr Neurol. 2011 Nov;45(5):283-91. doi: 10.1016/j.pediatrneurol.2011.07.006. Review.

PMID:
22000307
6.

Prostate cancer disparities in South Carolina: early detection, special programs, and descriptive epidemiology.

Drake BF, Keane TE, Mosley CM, Adams SA, Elder KT, Modayil MV, Ureda JR, Hebert JR.

J S C Med Assoc. 2006 Aug;102(7):241-9. Review.

PMID:
17319238
7.

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

van Karnebeek CD, Stockler S.

Mol Genet Metab. 2012 Mar;105(3):368-81. doi: 10.1016/j.ymgme.2011.11.191. Epub 2011 Nov 30. Review.

8.

Research challenges in central nervous system manifestations of inborn errors of metabolism.

Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC.

Mol Genet Metab. 2011 Mar;102(3):326-38. doi: 10.1016/j.ymgme.2010.11.164. Epub 2010 Dec 2. Review.

9.

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.

10.

Clinical approach to the diagnoses of inborn errors of metabolism.

Kamboj M.

Pediatr Clin North Am. 2008 Oct;55(5):1113-27, viii. doi: 10.1016/j.pcl.2008.07.004. Review.

PMID:
18929055
11.

Assessing the quality of healthcare provided to children.

Mangione-Smith R, McGlynn EA.

Health Serv Res. 1998 Oct;33(4 Pt 2):1059-90. Review.

12.

Inborn errors of metabolism in infancy: a guide to diagnosis.

Burton BK.

Pediatrics. 1998 Dec;102(6):E69. Review.

PMID:
9832597
13.

Carnitine supplementation for inborn errors of metabolism.

Nasser M, Javaheri H, Fedorowicz Z, Noorani Z.

Cochrane Database Syst Rev. 2012 Feb 15;2:CD006659. doi: 10.1002/14651858.CD006659.pub3. Review.

PMID:
22336821
14.

Carnitine supplementation for inborn errors of metabolism.

Nasser M, Javaheri H, Fedorowicz Z, Noorani Z.

Cochrane Database Syst Rev. 2009 Apr 15;(2):CD006659. doi: 10.1002/14651858.CD006659.pub2. Review. Update in: Cochrane Database Syst Rev. 2012;2:CD006659.

PMID:
19370646
15.

Risk management frameworks for human health and environmental risks.

Jardine C, Hrudey S, Shortreed J, Craig L, Krewski D, Furgal C, McColl S.

J Toxicol Environ Health B Crit Rev. 2003 Nov-Dec;6(6):569-720. Review.

PMID:
14698953
16.

Comparative effectiveness of asthma interventions within a practice based research network.

Tapp H, Hebert L, Dulin M.

BMC Health Serv Res. 2011 Aug 16;11:188. doi: 10.1186/1472-6963-11-188. Review.

17.

Inborn errors of metabolism at the turn of the millennium.

Barić I, Fumić K, Hoffmann GF.

Croat Med J. 2001 Aug;42(4):379-83. Review.

18.

Neonatal screening for inborn errors of metabolism: update.

Seashore MR.

Semin Perinatol. 1990 Dec;14(6):431-8. Review.

PMID:
2077663
20.

Inborn errors of metabolism and their status in India.

Dherai AJ.

Clin Lab Med. 2012 Jun;32(2):263-79. doi: 10.1016/j.cll.2012.04.006. Review.

PMID:
22727004
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