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Items: 1 to 20 of 181

1.

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

Sykut-Cegielska J, Gradowska W, Piekutowska-Abramczuk D, Andresen BS, Olsen RK, Ołtarzewski M, Pronicki M, Pajdowska M, Bogdańska A, Jabłońska E, Radomyska B, Kuśmierska K, Krajewska-Walasek M, Gregersen N, Pronicka E.

J Inherit Metab Dis. 2011 Feb;34(1):185-95. doi: 10.1007/s10545-010-9244-x. Epub 2010 Nov 20.

PMID:
21103935
2.

Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?

Holub M, Bodamer OA, Item C, Mühl A, Pollak A, Stöckler-Ipsiroglu S.

Acta Paediatr. 2005 Jan;94(1):48-52.

PMID:
15858960
3.

Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.

Vilarinho L, Marques JS, Rocha H, Ramos A, Lopes L, Narayan SB, Bennett MJ.

Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005. Epub 2012 Apr 13.

PMID:
22579592
4.

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.

Pediatrics. 2001 Jul;108(1):E19.

PMID:
11433098
5.

Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.

Yang Z, Yamada J, Zhao Y, Strauss AW, Ibdah JA.

JAMA. 2002 Nov 6;288(17):2163-6.

PMID:
12413376
6.

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, Gibson B, Shapiro S, Strauss AW.

Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):841-5.

7.

The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.

Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J.

J Inherit Metab Dis. 2006 Feb;29(1):76-85.

PMID:
16601872
8.

Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.

Schymik I, Liebig M, Mueller M, Wendel U, Mayatepek E, Strauss AW, Wanders RJ, Spiekerkoetter U.

J Pediatr. 2006 Jul;149(1):128-30.

PMID:
16860141
9.
10.

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF.

Pediatrics. 2003 Jun;111(6 Pt 1):1399-406.

PMID:
12777559
11.

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.

Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, Chiang SH, Kao CH, Liu TT, Chiang H, Hsiao KJ.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S295-305. doi: 10.1007/s10545-010-9129-z. Epub 2010 Jun 22.

PMID:
20567911
12.

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.

Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann GF.

Orphanet J Rare Dis. 2011 Jun 20;6:44. doi: 10.1186/1750-1172-6-44.

13.

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M.

Mol Genet Metab. 2010 Mar;99(3):263-8. doi: 10.1016/j.ymgme.2009.10.188. Epub 2009 Nov 1.

PMID:
20036593
14.

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.

Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S373-7. doi: 10.1007/s10545-010-9190-7. Epub 2010 Sep 3.

PMID:
20814823
15.

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

Hintz SR, Matern D, Strauss A, Bennett MJ, Hoyme HE, Schelley S, Kobori J, Colby C, Lehman NL, Enns GM.

Mol Genet Metab. 2002 Feb;75(2):120-7.

PMID:
11855930
16.

[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, association with HELLP and magnetic resonance spectroscopy findings].

Deltetto N, Maxit C, Marchione D, Szlago M, Schenone A, Besada CH, Vaccarezza M, Agosta G.

Arch Argent Pediatr. 2012 Aug;110(4):e63-6. doi: 10.1590/S0325-00752012000400014. Spanish.

17.

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A.

Mol Genet Metab. 2014 Apr;111(4):484-92. doi: 10.1016/j.ymgme.2014.01.009. Epub 2014 Jan 23.

PMID:
24503138
18.

Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.

Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF.

J Inherit Metab Dis. 2007 Aug;30(4):507-14. Epub 2007 Mar 8.

PMID:
17347912
19.

Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.

Gutiérrez Junquera C, Balmaseda E, Gil E, Martínez A, Sorli M, Cuartero I, Merinero B, Ugarte M.

Eur J Pediatr. 2009 Jan;168(1):103-6. doi: 10.1007/s00431-008-0696-z. Epub 2008 Apr 12.

PMID:
18408953
20.

Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.

Roe DS, Yang BZ, Vianey-Saban C, Struys E, Sweetman L, Roe CR.

Mol Genet Metab. 2006 Jan;87(1):40-7. Epub 2005 Nov 16.

PMID:
16297647

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