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Items: 1 to 20 of 107

1.

Maternal isovaleric acidemia: observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy.

Castelnovi C, Moseley K, Yano S.

Clin Chim Acta. 2010 Dec 14;411(23-24):2101-3. doi: 10.1016/j.cca.2010.08.023. Epub 2010 Aug 31.

PMID:
20807522
2.

[Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine].

Lund AB, Lund AM.

Ugeskr Laeger. 2011 Apr 11;173(15):1121-3. Danish.

PMID:
21672462
3.

Genetic mutation profile of isovaleric acidemia patients in Taiwan.

Lin WD, Wang CH, Lee CC, Lai CC, Tsai Y, Tsai FJ.

Mol Genet Metab. 2007 Feb;90(2):134-9. Epub 2006 Oct 4.

PMID:
17027310
4.

Surprising causes of C5-carnitine false positive results in newborn screening.

Boemer F, Schoos R, de Halleux V, Kalenga M, Debray FG.

Mol Genet Metab. 2014 Jan;111(1):52-4. doi: 10.1016/j.ymgme.2013.11.005. Epub 2013 Nov 19.

PMID:
24291264
5.

Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.

Shigematsu Y, Hata I, Tajima G.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S283-8. doi: 10.1007/s10545-010-9111-9. Epub 2010 May 4.

PMID:
20440648
6.

Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia.

Shigematsu Y, Hata I, Tanaka Y.

Clin Chim Acta. 2007 Nov-Dec;386(1-2):82-6. Epub 2007 Aug 19.

PMID:
17850781
7.

[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry].

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

Zhonghua Yi Xue Za Zhi. 2008 Aug 5;88(30):2122-6. Chinese.

PMID:
19080473
8.

Isovaleric acidemia.

Pascarella A, Rosa M, della Casa R, Andria G, Parenti G.

J Pediatr Endocrinol Metab. 2011;24(5-6):399. No abstract available.

PMID:
21823546
9.

Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.

Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW.

Clin Chem. 2001;47(7):1166-82. Erratum in: Clin Chem 2001 Sep;47(9):1748.

10.

[C5-carnitine false positive results in newborn screening: what is the cause?].

Yahyaoui R, Rueda I, Dayaldasani A, Boemer F.

Med Clin (Barc). 2015 Feb 20;144(4):181-2. doi: 10.1016/j.medcli.2014.03.011. Epub 2014 Jun 2. Spanish. No abstract available.

PMID:
24889749
11.

Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.

Bei F, Sun JH, Yu YG, Jia J, Zheng ZJ, Fu QH, Cai W.

Gene. 2013 Jul 25;524(2):396-400. doi: 10.1016/j.gene.2013.03.139. Epub 2013 Apr 12.

PMID:
23587913
12.

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

Couce ML, Aldamiz-Echevarría L, Bueno MA, Barros P, Belanger-Quintana A, Blasco J, García-Silva MT, Márquez-Armenteros AM, Vitoria I, Vives I, Navarrete R, Fernández-Marmiesse A, Pérez B, Pérez-Cerdá C.

J Hum Genet. 2017 Mar;62(3):355-360. doi: 10.1038/jhg.2016.144. Epub 2016 Dec 1.

PMID:
27904153
13.

[Neomatal Isovaleric acidemia in a case].

Tang JM.

Zhonghua Er Ke Za Zhi. 2007 Sep;45(9):720. Chinese. No abstract available.

PMID:
18021575
14.

UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.

Janzen N, Steuerwald U, Sander S, Terhardt M, Peter M, Sander J.

Clin Chim Acta. 2013 Jun 5;421:41-5. doi: 10.1016/j.cca.2013.03.001. Epub 2013 Mar 13.

PMID:
23499962
15.

Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case.

Wei CC, Lin WD, Tsai FJ, Wu JY, Peng CT, Tsai CH.

Acta Paediatr Taiwan. 2004 Jul-Aug;45(4):236-8.

PMID:
15624372
16.

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
17.

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Grünert SC, Wendel U, Lindner M, Leichsenring M, Schwab KO, Vockley J, Lehnert W, Ensenauer R.

Orphanet J Rare Dis. 2012 Jan 25;7:9. doi: 10.1186/1750-1172-7-9.

18.

L-carnitine therapy in isovaleric acidemia.

Roe CR, Millington DS, Maltby DA, Kahler SG, Bohan TP.

J Clin Invest. 1984 Dec;74(6):2290-5.

19.

2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.

van Calcar SC, Gleason LA, Lindh H, Hoffman G, Rhead W, Vockley G, Wolff JA, Durkin MS.

WMJ. 2007 Feb;106(1):12-5.

20.

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

Vockley J, Ensenauer R.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):95-103. Review.

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