Van Calcar SC - Search Results

1

Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.

Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH. Van Calcar SC, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):23-37. doi: 10.1016/j.ymgme.2020.10.001. Epub 2020 Oct 6. Mol Genet Metab. 2020. PMID: 33093005 Free article. Review.

2

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.

3

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.

4

A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia.

Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT. Van Calcar SC, et al. Mol Genet Metab. 2014 Jul;112(3):191-7. doi: 10.1016/j.ymgme.2014.04.004. Epub 2014 May 2. Mol Genet Metab. 2014. PMID: 24857409 Review.

5

Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians.

Hansen J, Hollander S, Drilias N, Van Calcar S, Rohr F, Bernstein L. Hansen J, et al. JIMD Rep. 2020 Apr 8;53(1):83-89. doi: 10.1002/jmd2.12106. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395413 Free PMC article.

6

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.

Gillingham MB, Weleber RG, Neuringer M, Connor WE, Mills M, van Calcar S, Ver Hoeve J, Wolff J, Harding CO. Gillingham MB, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):124-33. doi: 10.1016/j.ymgme.2005.06.001. Epub 2005 Jul 22. Mol Genet Metab. 2005. PMID: 16040264 Free PMC article.

7

Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods.

Stroup BM, Ney DM, Murali SG, Rohr F, Gleason ST, van Calcar SC, Levy HL. Stroup BM, et al. Among authors: van calcar sc. J Nutr Metab. 2017;2017:6859820. doi: 10.1155/2017/6859820. Epub 2017 Dec 31. J Nutr Metab. 2017. PMID: 29464117 Free PMC article.

8

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.

9

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.

10

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.

Scott Schwoerer J, van Calcar S, Rice GM, Deline J. Scott Schwoerer J, et al. Mol Genet Metab Rep. 2016 Jun 2;8:4-7. doi: 10.1016/j.ymgmr.2016.05.003. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 28649556 Free PMC article.

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