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Results: 1 to 20 of 106

1.

Clinical variability of isovaleric acidemia in a genetically homogeneous population.

Dercksen M, Duran M, Ijlst L, Mienie LJ, Reinecke CJ, Ruiter JP, Waterham HR, Wanders RJ.

J Inherit Metab Dis. 2012 Nov;35(6):1021-9. doi: 10.1007/s10545-012-9457-2. Epub 2012 Feb 17.

PMID:
22350545
[PubMed - indexed for MEDLINE]
2.

Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.

Vatanavicharn N, Liammongkolkul S, Sakamoto O, Sathienkijkanchai A, Wasant P.

Pediatr Int. 2011 Dec;53(6):990-4. doi: 10.1111/j.1442-200X.2011.03488.x.

PMID:
22004070
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

[Clinical and mutational study of a Chinese infant with isovaleric acidemia].

Qiu WJ, Gu XF, Ye J, Han LS, Bai HT, Wang X, Gao XL, Wang Y, Jin J, Zhang HW.

Zhonghua Er Ke Za Zhi. 2008 Jul;46(7):526-30. Chinese.

PMID:
19099814
[PubMed - indexed for MEDLINE]
5.

Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.

Kaya N, Colak D, Al-Bakheet A, Al-Younes B, Tulbah S, Daghestani M, Al-Mutairi F, Al-Amoudi M, Al-Odaib A, Al-Aqeel AI.

Gene. 2013 Jan 25;513(2):297-300. doi: 10.1016/j.gene.2012.09.097. Epub 2012 Oct 9.

PMID:
23063737
[PubMed - indexed for MEDLINE]
6.

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.

Van Calcar SC, Baker MW, Williams P, Jones SA, Xiong B, Thao MC, Lee S, Yang MK, Rice GM, Rhead W, Vockley J, Hoffman G, Durkin MS.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):111-5. doi: 10.1016/j.ymgme.2013.03.021. Epub 2013 Apr 15.

PMID:
23712021
[PubMed - indexed for MEDLINE]
7.

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

Hertecant JL, Ben-Rebeh I, Marah MA, Abbas T, Ayadi L, Ben Salem S, Al-Jasmi FA, Al-Gazali L, Al-Yahyaee SA, Ali BR.

Eur J Med Genet. 2012 Dec;55(12):671-6. doi: 10.1016/j.ejmg.2012.08.001. Epub 2012 Aug 16.

PMID:
22960500
[PubMed - indexed for MEDLINE]
8.

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.

Lee YW, Lee DH, Vockley J, Kim ND, Lee YK, Ki CS.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):71-7. Epub 2007 Jun 18.

PMID:
17576084
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
16602101
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Molecular defect of isovaleryl-CoA dehydrogenase in the skunk mutant of silkworm, Bombyx mori.

Urano K, Daimon T, Banno Y, Mita K, Terada T, Shimizu K, Katsuma S, Shimada T.

FEBS J. 2010 Nov;277(21):4452-63. doi: 10.1111/j.1742-4658.2010.07832.x. Epub 2010 Oct 1.

PMID:
21040472
[PubMed - indexed for MEDLINE]
11.

[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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.
14.

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

GrĂ¼nert 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.

PMID:
22277694
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase.

Volchenboum SL, Vockley J.

J Biol Chem. 2000 Mar 17;275(11):7958-63.

PMID:
10713113
[PubMed - indexed for MEDLINE]
Free Article
16.

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.

Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, Liu W.

Am J Hum Genet. 2000 Feb;66(2):356-67.

PMID:
10677295
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.

Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S453-6. doi: 10.1007/s10545-008-1039-y. Epub 2008 Dec 16.

PMID:
19089597
[PubMed - indexed for MEDLINE]
18.

Molecular basis of isovaleric acidemia and medium-chain acyl-CoA dehydrogenase deficiency.

Tanaka K, Ikeda Y, Matsubara Y, Hyman DB.

Enzyme. 1987;38(1-4):91-107. Review.

PMID:
3326738
[PubMed - indexed for MEDLINE]
19.

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.

Mohsen AW, Anderson BD, Volchenboum SL, Battaile KP, Tiffany K, Roberts D, Kim JJ, Vockley J.

Biochemistry. 1998 Jul 14;37(28):10325-35.

PMID:
9665741
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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