Chang RC - Search Results

1

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng SW, Graham BH, Wong LJ. Brautbar A, et al. Among authors: chang rc. Mol Genet Metab. 2008 Aug;94(4):485-490. doi: 10.1016/j.ymgme.2008.04.004. Epub 2008 May 20. Mol Genet Metab. 2008. PMID: 18495510

2

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. 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

3

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. 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

4

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. 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

5

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Friedman J, et al. Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685. Ann Neurol. 2012. PMID: 22522443

6

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. Hum Mutat. 2013 Mar;34(3):446-52. doi: 10.1002/humu.22257. Epub 2013 Jan 29. Hum Mutat. 2013. PMID: 23281071

7

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: chang rc. 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.

8

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: chang rc. JIMD Rep. 2014;14:29-35. doi: 10.1007/8904_2013_280. Epub 2013 Nov 23. JIMD Rep. 2014. PMID: 24272679 Free PMC article.

9

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: chang ac, chang rc. 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

10

Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.

Longo N, Arnold GL, Pridjian G, Enns GM, Ficicioglu C, Parker S, Cohen-Pfeffer JL; Phenylketonuria Demographics, Outcomes and Safety Registry. Longo N, et al. Mol Genet Metab. 2015 Apr;114(4):557-63. doi: 10.1016/j.ymgme.2015.02.003. Epub 2015 Feb 16. Mol Genet Metab. 2015. PMID: 25724073 Free article.

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