Abdenur JE - Search Results

1

Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.

Wang RY, Chang RC, Sowa ME, Chang AC, Abdenur JE. Wang RY, et al. Among authors: abdenur je. World J Pediatr. 2014 Feb;10(1):83-5. doi: 10.1007/s12519-014-0458-0. Epub 2014 Jan 25. World J Pediatr. 2014. PMID: 24464670

2

Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.

Williams TB, Daniels M, Puthenveetil G, Chang R, Wang RY, Abdenur JE. Williams TB, et al. Among authors: abdenur je. Mol Genet Metab. 2012 May;106(1):104-7. doi: 10.1016/j.ymgme.2012.01.018. Epub 2012 Jan 28. Mol Genet Metab. 2012. PMID: 22424738

3

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

Puckett RL, Lorey F, Rinaldo P, Lipson MH, Matern D, Sowa ME, Levine S, Chang R, Wang RY, Abdenur JE. Puckett RL, et al. Among authors: abdenur je. Mol Genet Metab. 2010 Jun;100(2):136-42. doi: 10.1016/j.ymgme.2009.11.010. Epub 2009 Dec 5. Mol Genet Metab. 2010. PMID: 20307994

4

Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

Simon M, Chang RC, Bali DS, Wong LJ, Peng Y, Abdenur JE. Simon M, et al. Among authors: abdenur je. JIMD Rep. 2014;14:29-35. doi: 10.1007/8904_2013_280. Epub 2013 Nov 23. JIMD Rep. 2014. PMID: 24272679 Free PMC article.

5

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Van Hove JLK, Freeze HH, Abdenur JE. Simon MT, et al. Among authors: abdenur je. Mitochondrion. 2017 May;34:84-90. doi: 10.1016/j.mito.2017.02.004. Epub 2017 Feb 12. Mitochondrion. 2017. PMID: 28216230 Free PMC article.

6

Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.

Simon MT, Eftekharian SS, Stover AE, Osborne AF, Braffman BH, Chang RC, Wang RY, Steenari MR, Tang S, Hwu PW, Taft RJ, Benke PJ, Abdenur JE. Simon MT, et al. Among authors: abdenur je. Mol Genet Metab. 2019 Jan;126(1):53-63. doi: 10.1016/j.ymgme.2018.11.001. Epub 2018 Nov 8. Mol Genet Metab. 2019. PMID: 30473481 Free PMC article.

7

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.

Chapel-Crespo C, Gavrilov D, Sowa M, Myers J, Day-Salvatore DL, Lynn H, Regier D, Starin D, Steenari M, Schoonderwoerd K, Abdenur JE. Chapel-Crespo C, et al. Among authors: abdenur je. Mol Genet Metab. 2019 Sep-Oct;128(1-2):113-121. doi: 10.1016/j.ymgme.2019.07.015. Epub 2019 Jul 29. Mol Genet Metab. 2019. PMID: 31395333 Free article. No abstract available.

8

The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency.

Huang Y, Chang R, Abdenur JE. Huang Y, et al. Among authors: abdenur je. Mol Genet Metab Rep. 2022 Jun 23;32:100885. doi: 10.1016/j.ymgmr.2022.100885. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35789945 Free PMC 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

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.

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