Abdenur JE - Search Results

1

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.

Stiles AR, Ferdinandusse S, Besse A, Appadurai V, Leydiker KB, Cambray-Forker EJ, Bonnen PE, Abdenur JE. Stiles AR, et al. Among authors: abdenur je. Mol Genet Metab. 2015 Aug;115(4):161-7. doi: 10.1016/j.ymgme.2015.05.008. Epub 2015 May 15. Mol Genet Metab. 2015. PMID: 26026795 Free PMC article.

2

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.

Leydiker KB, Neidich JA, Lorey F, Barr EM, Puckett RL, Lobo RM, Abdenur JE. Leydiker KB, et al. Among authors: abdenur je. Mol Genet Metab. 2011 May;103(1):92-5. doi: 10.1016/j.ymgme.2011.01.011. Epub 2011 Jan 27. Mol Genet Metab. 2011. PMID: 21354840

3

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.

Sremba LJ, Chang RC, Elbalalesy NM, Cambray-Forker EJ, Abdenur JE. Sremba LJ, et al. Among authors: abdenur je. Mol Genet Metab Rep. 2014 Aug 28;1:368-372. doi: 10.1016/j.ymgmr.2014.07.008. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896110 Free PMC article.

4

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.

Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Gallant NM, et al. Among authors: abdenur je. Mol Genet Metab. 2012 May;106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007. Epub 2012 Feb 9. Mol Genet Metab. 2012. PMID: 22424739

5

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.

Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE. Gallant NM, et al. Among authors: abdenur je. Mol Genet Metab. 2017 Nov;122(3):76-84. doi: 10.1016/j.ymgme.2017.06.015. Epub 2017 Jul 8. Mol Genet Metab. 2017. PMID: 28711408

6

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE. Stiles AR, et al. Among authors: abdenur je. Mol Genet Metab. 2016 Sep;119(1-2):91-9. doi: 10.1016/j.ymgme.2016.07.001. Epub 2016 Jul 4. Mol Genet Metab. 2016. PMID: 27448789

7

Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.

Wang RY, Cambray-Forker EJ, Ohanian K, Karlin DS, Covault KK, Schwartz PH, Abdenur JE. Wang RY, et al. Among authors: abdenur je. Mol Genet Metab. 2009 Dec;98(4):406-11. doi: 10.1016/j.ymgme.2009.07.015. Epub 2009 Aug 5. Mol Genet Metab. 2009. PMID: 19748810

8

Reduction in newborn screening metabolic false-positive results following a new collection protocol.

Morris M, Fischer K, Leydiker K, Elliott L, Newby J, Abdenur JE. Morris M, et al. Among authors: abdenur je. Genet Med. 2014 Jun;16(6):477-83. doi: 10.1038/gim.2013.171. Epub 2013 Oct 31. Genet Med. 2014. PMID: 24177054 Free article.

9

Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. Puckett RL, et al. Among authors: abdenur je. Mol Genet Metab. 2012 Jan;105(1):126-31. doi: 10.1016/j.ymgme.2011.10.010. Epub 2011 Oct 25. Mol Genet Metab. 2012. PMID: 22115770

10

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet.

Abdenur JE, Sowa M, Simon M, Steenari M, Skaar J, Eftekharian S, Chang R, Ferdinandusse S, Pitt J. Abdenur JE, et al. Mol Genet Metab Rep. 2020 Jul 3;24:100617. doi: 10.1016/j.ymgmr.2020.100617. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32642440 Free PMC article. No abstract available.

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