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Results: 1 to 20 of 27

1.

Propionylcarnitine and methionine concentrations in newborns with hypospadias.

Kowal A, Mydlak D, Ołtarzewski M, Bauer A, Sawicka E, Hozyasz KK.

Cent European J Urol. 2013;66(3):377-80. doi: 10.5173/ceju.2013.03.art36. Epub 2013 Nov 18.

PMID:
24707392
[PubMed]
Free PMC Article
2.

Identification of the plasma metabolomics as early diagnostic markers between biliary atresia and neonatal hepatitis syndrome.

Zhao D, Han L, He Z, Zhang J, Zhang Y.

PLoS One. 2014 Jan 8;9(1):e85694. doi: 10.1371/journal.pone.0085694. eCollection 2014.

PMID:
24416443
[PubMed - in process]
Free PMC Article
3.

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

Couce ML, Sánchez-Pintos P, Diogo L, Leão-Teles E, Martins E, Santos H, Bueno MA, Delgado-Pecellín C, Castiñeiras DE, Cocho JA, García-Villoria J, Ribes A, Fraga JM, Rocha H.

Orphanet J Rare Dis. 2013 Jul 10;8:102. doi: 10.1186/1750-1172-8-102.

PMID:
23842438
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Fatty Acid oxidation disorders in a chinese population in taiwan.

Chien YH, Lee NC, Chao MC, Chen LC, Chen LH, Chien CC, Ho HC, Suen JH, Hwu WL.

JIMD Rep. 2013;11:165-72. doi: 10.1007/8904_2013_236. Epub 2013 May 23.

PMID:
23700290
[PubMed]
Free PMC Article
5.

A mass spectrometric study for comparative analysis and evaluation of metabolite recovery from plasma by various solvent systems.

Dutta A, Shetty P, Bhat S, Ramachandra Y, Hegde S.

J Biomol Tech. 2012 Dec;23(4):128-35. doi: 10.7171/jbt.12-2304-001.

PMID:
23204928
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.

Health Quality Ontario.

Ont Health Technol Assess Ser. 2003;3(3):1-36. Epub 2003 May 1.

PMID:
23074443
[PubMed]
Free PMC Article
7.
8.

Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.

Hamers FF, Rumeau-Pichon C.

BMC Pediatr. 2012 Jun 8;12:60. doi: 10.1186/1471-2431-12-60.

PMID:
22681855
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Analysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry.

Vieira Neto E, Fonseca AA, Almeida RF, Figueiredo MP, Porto MA, Ribeiro MG.

Braz J Med Biol Res. 2012 Jun;45(6):546-56. Epub 2012 Apr 12.

PMID:
22488223
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy.

Keeler AM, Conlon T, Walter G, Zeng H, Shaffer SA, Dungtao F, Erger K, Cossette T, Tang Q, Mueller C, Flotte TR.

Mol Ther. 2012 Jun;20(6):1131-8. doi: 10.1038/mt.2012.39. Epub 2012 Mar 6.

PMID:
22395529
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.

Oerton J, Khalid JM, Besley G, Dalton RN, Downing M, Green A, Henderson M, Krywawych S, Leonard J, Andresen BS, Dezateux C.

J Med Screen. 2011;18(4):173-81. doi: 10.1258/jms.2011.011086. Epub 2011 Dec 13.

PMID:
22166308
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

False-positive newborn screening result and future health care use in a state Medicaid cohort.

Tarini BA, Clark SJ, Pilli S, Dombkowski KJ, Korzeniewski SJ, Gebremariam A, Eisenhandler J, Grigorescu V.

Pediatrics. 2011 Oct;128(4):715-22. doi: 10.1542/peds.2010-2448. Epub 2011 Sep 19.

PMID:
21930552
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.

Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B.

Am J Hum Genet. 2011 Apr 8;88(4):402-21. doi: 10.1016/j.ajhg.2011.03.005. Review.

PMID:
21473982
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.

Woo HI, Park HD, Lee YW, Lee DH, Ki CS, Lee SY, Kim JW.

Korean J Lab Med. 2011 Jan;31(1):54-60. doi: 10.3343/kjlm.2011.31.1.54.

PMID:
21239873
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Reduced levels of hydroxylated, polyunsaturated ultra long-chain fatty acids in the serum of colorectal cancer patients: implications for early screening and detection.

Ritchie SA, Ahiahonu PW, Jayasinghe D, Heath D, Liu J, Lu Y, Jin W, Kavianpour A, Yamazaki Y, Khan AM, Hossain M, Su-Myat KK, Wood PL, Krenitsky K, Takemasa I, Miyake M, Sekimoto M, Monden M, Matsubara H, Nomura F, Goodenowe DB.

BMC Med. 2010 Feb 15;8:13. doi: 10.1186/1741-7015-8-13.

PMID:
20156336
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA.

Mol Genet Metab. 2010 Feb;99(2):116-23. doi: 10.1016/j.ymgme.2009.09.008. Epub 2009 Sep 27.

PMID:
19836982
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Newborn screening in Canada - Are we out of step?

Hanley WB.

Paediatr Child Health. 2005 Apr;10(4):203-7.

PMID:
19668615
[PubMed]
Free PMC Article
18.

Expanded newborn screening: Lessons learned from MCAD deficiency.

Dyack S.

Paediatr Child Health. 2004 Apr;9(4):241-3. No abstract available.

PMID:
19655016
[PubMed]
Free PMC Article
19.

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A.

Mol Genet Metab. 2009 Mar;96(3):85-90. doi: 10.1016/j.ymgme.2008.09.008. Epub 2009 Jan 20.

PMID:
19157942
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.

Merritt JL 2nd, Nguyen T, Daniels J, Matern D, Schowalter DB.

Mol Ther. 2009 Mar;17(3):425-9. doi: 10.1038/mt.2008.295. Epub 2009 Jan 20.

PMID:
19156135
[PubMed - indexed for MEDLINE]
Free PMC Article

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