Wang RY - Search Results

1

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: wang ry. 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.

2

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. 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

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: wang ry. 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

Carotid intima-media thickness is increased in patients with mucopolysaccharidoses.

Wang RY, Covault KK, Halcrow EM, Gardner AJ, Cao X, Newcomb RL, Dauben RD, Chang AC. Wang RY, et al. Mol Genet Metab. 2011 Dec;104(4):592-6. doi: 10.1016/j.ymgme.2011.09.004. Epub 2011 Sep 10. Mol Genet Metab. 2011. PMID: 21963080 Free PMC article.

5

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: wang ry. 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

6

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: wang ry. 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

7

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: wang ry. 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

8

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.

Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N. Miyake N, et al. Among authors: wang ry. Hum Mutat. 2013 Mar;34(3):446-52. doi: 10.1002/humu.22257. Epub 2013 Jan 29. Hum Mutat. 2013. PMID: 23281071

9

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.

Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. Lieu MT, et al. Among authors: wang ry. Mol Genet Metab. 2013 Dec;110(4):484-9. doi: 10.1016/j.ymgme.2013.09.016. Epub 2013 Oct 4. Mol Genet Metab. 2013. PMID: 24144945 Free PMC article.

10

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. 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

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