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Items: 19

1.

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N.

Mol Genet Metab. 2008 Apr;93(4):363-70.

PMID:
18155630
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.

Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner MR.

J Inherit Metab Dis. 2005;28(3):301-9. Review.

PMID:
15868465
4.

[3-Methylcrotonyl-CoA carboxylase deficiency].

Yoshida I.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):284-7. Review. Japanese. No abstract available.

PMID:
9590048
5.

Biochemical findings in common inborn errors of metabolism.

Pasquali M, Monsen G, Richardson L, Alston M, Longo N.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):64-76. Review.

PMID:
16602099
6.

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
7.

Methodology for the systematic reviews on an evidence-based approach for the management of chronic low back pain.

Norvell DC, Dettori JR, Fehlings MG, Fourney DR, Chapman JR.

Spine (Phila Pa 1976). 2011 Oct 1;36(21 Suppl):S10-8. doi: 10.1097/BRS.0b013e31822ef8ee. Review.

PMID:
21952182
8.

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
9.

[Diagnosis and acute treatment of inborn metabolic diseases in infants].

Lund AM, Christensen E, Skovby F.

Ugeskr Laeger. 2002 Nov 25;164(48):5613-9. Review. Danish.

PMID:
12523004
10.

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.

11.

A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.

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

J Public Health Med. 1998 Sep;20(3):331-43. Review.

PMID:
9793900
12.

Role and modalities of information and education in the management of patients with rheumatoid arthritis: development of recommendations for clinical practice based on published evidence and expert opinion.

Fautrel B, Pham T, Gossec L, Combe B, Flipo RM, Goupille P, Le Loët X, Mariette X, Puéchal X, Wendling D, Schaeverbeke T, Sibilia J, Sany J, Dougados M.

Joint Bone Spine. 2005 Mar;72(2):163-70. Review.

PMID:
15797498
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.

Imaging for the diagnosis and follow-up of ankylosing spondylitis: development of recommendations for clinical practice based on published evidence and expert opinion.

Pavy S, Dernis E, Lavie F, Maillefert JF, Mariette X, Schaeverbeke T, Cantagrel A, Claudepierre P, Flipo RM, Goupille P, Le Loet X, Saraux A, Tebib J, Wendling D, Combe B.

Joint Bone Spine. 2007 Jul;74(4):338-45. Review.

PMID:
17591453
15.

Clinical and laboratory follow-up for treating and monitoring patients with ankylosing spondylitis: development of recommendations for clinical practice based on published evidence and expert opinion.

Dernis E, Lavie F, Pavy S, Wendling D, Flipo RM, Saraux A, Cantagrel A, Claudepierrre P, Goupille P, Le Loët X, Maillefert JF, Mariette X, Schaeverbeke T, Tebib J, Combe B.

Joint Bone Spine. 2007 Jul;74(4):330-7. Review.

PMID:
17590366
16.

An evidence-based guideline for children presenting with acute breathing difficulty.

Lakhanpaul M, MacFaul R, Werneke U, Armon K, Hemingway P, Stephenson T.

Emerg Med J. 2009 Dec;26(12):850-3. doi: 10.1136/emj.2008.064279.

PMID:
19934124
17.

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S.

Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Review.

18.

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. Review.

19.

Drug treatment of inborn errors of metabolism: a systematic review.

Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M.

Arch Dis Child. 2013 Jun;98(6):454-61. doi: 10.1136/archdischild-2012-303131. Review.

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