Vockley J - Search Results

1

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Among authors: vockley j. Mol Genet Metab. 2008 Feb;93(2):179-89. doi: 10.1016/j.ymgme.2007.09.021. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18054510

2

Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.

Tein I, Haslam RH, Rhead WJ, Bennett MJ, Becker LE, Vockley J. Tein I, et al. Among authors: vockley j. Neurology. 1999 Jan 15;52(2):366-72. doi: 10.1212/wnl.52.2.366. Neurology. 1999. PMID: 9932958

3

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways.

Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Vockley J, et al. Mol Genet Metab. 2000 Sep-Oct;71(1-2):10-8. doi: 10.1006/mgme.2000.3066. Mol Genet Metab. 2000. PMID: 11001791 Review.

4

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.

Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N. Corydon MJ, et al. Among authors: vockley j. Pediatr Res. 2001 Jan;49(1):18-23. doi: 10.1203/00006450-200101000-00008. Pediatr Res. 2001. PMID: 11134486

5

Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

Matern D, Hart P, Murtha AP, Vockley J, Gregersen N, Millington DS, Treem WR. Matern D, et al. Among authors: vockley j. J Pediatr. 2001 Apr;138(4):585-8. doi: 10.1067/mpd.2001.111814. J Pediatr. 2001. PMID: 11295727

6

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

Cox KB, Hamm DA, Millington DS, Matern D, Vockley J, Rinaldo P, Pinkert CA, Rhead WJ, Lindsey JR, Wood PA. Cox KB, et al. Among authors: vockley j. Hum Mol Genet. 2001 Sep 15;10(19):2069-77. doi: 10.1093/hmg/10.19.2069. Hum Mol Genet. 2001. PMID: 11590124

7

Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme.

Nguyen TV, Riggs C, Babovic-Vuksanovic D, Kim YS, Carpenter JF, Burghardt TP, Gregersen N, Vockley J. Nguyen TV, et al. Among authors: vockley j. Biochemistry. 2002 Sep 17;41(37):11126-33. doi: 10.1021/bi026030r. Biochemistry. 2002. PMID: 12220177

8

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J. Nguyen TV, et al. Among authors: vockley j. Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79. doi: 10.1016/s1096-7192(02)00152-x. Mol Genet Metab. 2002. PMID: 12359132

9

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Koeberl DD, et al. Among authors: vockley j. Pediatr Res. 2003 Aug;54(2):219-23. doi: 10.1203/01.PDR.0000074972.36356.89. Epub 2003 May 7. Pediatr Res. 2003. PMID: 12736383

10

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Matern D, et al. Among authors: vockley j. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. Pediatrics. 2003. PMID: 12837870 Review.

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