Van Calcar SC - Search Results

1

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. 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.

2

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. WMJ. 2007 Feb;106(1):12-5. WMJ. 2007. PMID: 17393751

3

Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.

Kuhl A, van Calcar S, Baker M, Seroogy CM, Rice G, Scott Schwoerer J. Kuhl A, et al. Genet Med. 2017 Mar;19(3):352-356. doi: 10.1038/gim.2016.104. Epub 2016 Aug 11. Genet Med. 2017. PMID: 27513192 Free article.

4

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J; IBEMC. Pena LD, et al. Among authors: van calcar sc. Mol Genet Metab. 2016 Aug;118(4):272-81. doi: 10.1016/j.ymgme.2016.05.007. Epub 2016 May 13. Mol Genet Metab. 2016. PMID: 27209629 Free PMC article.

5

Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

Scott Schwoerer J, Cooper G, van Calcar S. Scott Schwoerer J, et al. Mol Genet Metab Rep. 2015 Mar 30;3:39-41. doi: 10.1016/j.ymgmr.2015.03.003. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937394 Free PMC article.

6

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Matern D, et al. Among authors: van calcar sc. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. Pediatrics. 2003. PMID: 12837870 Review.

7

The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.

Berry SA, Jurek AM, Anderson C, Bentler K; Region 4 Genetics Collaborative Priority 2 Workgroup. Berry SA, et al. Genet Med. 2010 Dec;12(12 Suppl):S215-9. doi: 10.1097/GIM.0b013e3181fe5d23. Genet Med. 2010. PMID: 21150367 Free article.

8

Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome.

Schwoerer JA, Obernolte L, Van Calcar S, Heighway S, Bankowski H, Williams P, Rice G. Schwoerer JA, et al. JIMD Rep. 2012;6:15-20. doi: 10.1007/8904_2011_95. Epub 2012 Jan 31. JIMD Rep. 2012. PMID: 23430933 Free PMC article.

9

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.

Singh RH, Rohr F, Frazier D, Cunningham A, Mofidi S, Ogata B, Splett PL, Moseley K, Huntington K, Acosta PB, Vockley J, Van Calcar SC. Singh RH, et al. Among authors: van calcar sc. Genet Med. 2014 Feb;16(2):121-31. doi: 10.1038/gim.2013.179. Epub 2014 Jan 2. Genet Med. 2014. PMID: 24385075 Free PMC article. Review.

10

Nutritional management of PKU with glycomacropeptide from cheese whey.

Ney DM, Gleason ST, van Calcar SC, MacLeod EL, Nelson KL, Etzel MR, Rice GM, Wolff JA. Ney DM, et al. Among authors: van calcar sc. J Inherit Metab Dis. 2009 Feb;32(1):32-9. doi: 10.1007/s10545-008-0952-4. Epub 2008 Oct 29. J Inherit Metab Dis. 2009. PMID: 18956251 Free PMC article. Review.

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