Rhead W - Search Results

1

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B. Dionisi-Vici C, et al. Among authors: rhead w. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):383-9. doi: 10.1007/s10545-006-0278-z. J Inherit Metab Dis. 2006. PMID: 16763906 Review.

2

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

Rhead WJ. Rhead WJ. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):370-7. doi: 10.1007/s10545-006-0292-1. J Inherit Metab Dis. 2006. PMID: 16763904 Review.

3

National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary.

Dietzen DJ, Rinaldo P, Whitley RJ, Rhead WJ, Hannon WH, Garg UC, Lo SF, Bennett MJ. Dietzen DJ, et al. Among authors: rhead wj. Clin Chem. 2009 Sep;55(9):1615-26. doi: 10.1373/clinchem.2009.131300. Epub 2009 Jul 2. Clin Chem. 2009. PMID: 19574465

4

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.

Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM. Wolfe LA, et al. Among authors: rhead w. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(0 3):S481-7. doi: 10.1007/s10545-010-9246-8. Epub 2010 Nov 19. J Inherit Metab Dis. 2010. PMID: 21088898 Free PMC article.

5

Phenylketonuria in adulthood: a collaborative study.

Koch R, Burton B, Hoganson G, Peterson R, Rhead W, Rouse B, Scott R, Wolff J, Stern AM, Guttler F, Nelson M, de la Cruz F, Coldwell J, Erbe R, Geraghty MT, Shear C, Thomas J, Azen C. Koch R, et al. Among authors: rhead w. J Inherit Metab Dis. 2002 Sep;25(5):333-46. doi: 10.1023/a:1020158631102. J Inherit Metab Dis. 2002. PMID: 12408183 Clinical Trial.

6

The call from the newborn screening laboratory: frustration in the afternoon.

Rhead WJ, Irons M. Rhead WJ, et al. Pediatr Clin North Am. 2004 Jun;51(3):803-18, xii. doi: 10.1016/j.pcl.2004.01.009. Pediatr Clin North Am. 2004. PMID: 15157599 Review.

7

2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.

van Calcar SC, Gleason LA, Lindh H, Hoffman G, Rhead W, Vockley G, Wolff JA, Durkin MS. van Calcar SC, et al. Among authors: rhead w. WMJ. 2007 Feb;106(1):12-5. WMJ. 2007. PMID: 17393751

8

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.

Van Calcar SC, Baker MW, Williams P, Jones SA, Xiong B, Thao MC, Lee S, Yang MK, Rice GM, Rhead W, Vockley J, Hoffman G, Durkin MS. Van Calcar SC, et al. Among authors: rhead w. Mol Genet Metab. 2013 Sep-Oct;110(1-2):111-5. doi: 10.1016/j.ymgme.2013.03.021. Epub 2013 Apr 15. Mol Genet Metab. 2013. PMID: 23712021 Free PMC article.

9

Identification of Urine Organic Acids for the Detection of Inborn Errors of Metabolism Using Urease and Gas Chromatography-Mass Spectrometry (GC/MS).

Lo SF, Pierzchalski K, Young V, Rhead WJ. Lo SF, et al. Among authors: rhead wj. Methods Mol Biol. 2022;2546:335-350. doi: 10.1007/978-1-0716-2565-1_30. Methods Mol Biol. 2022. PMID: 36127602

10

Identification of urine organic acids for the detection of inborn errors of metabolism using urease and gas chromatography-mass spectrometry (GC-MS).

Lo SF, Young V, Rhead WJ. Lo SF, et al. Methods Mol Biol. 2010;603:433-43. doi: 10.1007/978-1-60761-459-3_42. Methods Mol Biol. 2010. PMID: 20077095

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