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Items: 1 to 20 of 47

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.

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.

4.

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
5.

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.

6.

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.

7.

Interventions to improve safe and effective medicines use by consumers: an overview of systematic reviews.

Ryan R, Santesso N, Lowe D, Hill S, Grimshaw J, Prictor M, Kaufman C, Cowie G, Taylor M.

Cochrane Database Syst Rev. 2014 Apr 29;(4):CD007768. doi: 10.1002/14651858.CD007768.pub3. Review.

PMID:
24777444
8.

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
9.

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

Burton BK.

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

PMID:
9832597
10.

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.

Tran C, Barbey F, Lazor R, Bonafé L.

Respiration. 2017;94(1):2-13. doi: 10.1159/000475762. Epub 2017 May 16. Review.

PMID:
28505614
11.

Progress toward improved therapies for inborn errors of metabolism.

Ginocchio VM, Brunetti-Pierri N.

Hum Mol Genet. 2016 Apr 15;25(R1):R27-35. doi: 10.1093/hmg/ddv418. Epub 2015 Oct 6. Review.

PMID:
26443595
12.

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
13.

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
14.

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.

15.

Adolescent presentations of inborn errors of metabolism.

Ahrens-Nicklas RC, Slap G, Ficicioglu C.

J Adolesc Health. 2015 May;56(5):477-82. doi: 10.1016/j.jadohealth.2015.01.008. Review.

PMID:
25907648
16.

Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases.

Valayannopoulos V, Poll-The BT.

Handb Clin Neurol. 2013;113:1553-62. doi: 10.1016/B978-0-444-59565-2.00025-3. Review.

PMID:
23622378
17.

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
18.

Neonatal screening for inborn errors of metabolism: update.

Seashore MR.

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

PMID:
2077663
19.

[Recent advances in inborn errors of metabolism].

Diament AJ.

Arq Neuropsiquiatr. 1987 Jun;45(2):177-87. Review. Portuguese.

PMID:
3322240
20.

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