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Items: 38

1.

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.

J Nutr Metab. 2017;2017:6859820. doi: 10.1155/2017/6859820. Epub 2017 Dec 31.

2.

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

Scott Schwoerer J, van Calcar S, Rice GM, Deline J.

Mol Genet Metab Rep. 2016 Jun 2;8:4-7. doi: 10.1016/j.ymgmr.2016.05.003. eCollection 2016 Sep.

3.

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.

van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J, Treacy EP, Vos R, Waisbren SE, Rubio-Gozalbo ME, Bosch AM.

JIMD Rep. 2017;35:87-96. doi: 10.1007/8904_2016_28. Epub 2016 Dec 20.

4.

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet).

J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. Review.

5.

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.

Genet Med. 2017 Mar;19(3):352-356. doi: 10.1038/gim.2016.104. Epub 2016 Aug 11.

PMID:
27513192
6.

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.

Mol Genet Metab. 2016 Aug;118(4):272-81. doi: 10.1016/j.ymgme.2016.05.007. Epub 2016 May 13.

7.

Role of medical food in MMA.

Cunningham A, Frazier D, Marriage B, Mofidi S, Ogata B, Rohr F, Ueda K, Van Calcar S, Yannicelli S.

Genet Med. 2016 Apr;18(4):413-4. doi: 10.1038/gim.2016.11. Epub 2016 Mar 10. No abstract available.

PMID:
26963282
8.

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

Scott Schwoerer J, Cooper G, van Calcar S.

Mol Genet Metab Rep. 2015 Mar 30;3:39-41. doi: 10.1016/j.ymgmr.2015.03.003. eCollection 2015 Jun.

9.

Abnormal Eating Behaviors Are Common in Children with Fetal Alcohol Spectrum Disorder.

Amos-Kroohs RM, Fink BA, Smith CJ, Chin L, Van Calcar SC, Wozniak JR, Smith SM.

J Pediatr. 2016 Feb;169:194-200.e1. doi: 10.1016/j.jpeds.2015.10.049. Epub 2015 Nov 19.

10.

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.

Mol Genet Metab. 2014 Jul;112(3):191-7. doi: 10.1016/j.ymgme.2014.04.004. Epub 2014 May 2. Review.

PMID:
24857409
11.

Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia.

Van Calcar SC, Bernstein LE, Rohr FJ, Yannicelli S, Berry GT, Scaman CH.

J Agric Food Chem. 2014 Feb 12;62(6):1397-402. doi: 10.1021/jf404995a. Epub 2014 Feb 3.

PMID:
24456566
12.

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.

Genet Med. 2014 Feb;16(2):121-31. doi: 10.1038/gim.2013.179. Epub 2014 Jan 2. Review.

13.

Inappropriate feeding behaviors and dietary intakes in children with fetal alcohol spectrum disorder or probable prenatal alcohol exposure.

Werts RL, Van Calcar SC, Wargowski DS, Smith SM.

Alcohol Clin Exp Res. 2014 Mar;38(3):871-8. doi: 10.1111/acer.12284. Epub 2013 Oct 24.

14.

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.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):111-5. doi: 10.1016/j.ymgme.2013.03.021. Epub 2013 Apr 15.

15.

Newborn screening 50 years later: access issues faced by adults with PKU.

Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, Moseley K, Suter R, van Calcar SC, Wiles J, Cederbaum S.

Genet Med. 2013 Aug;15(8):591-9. doi: 10.1038/gim.2013.10. Epub 2013 Mar 7. Review.

16.

Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome.

Schwoerer JA, Obernolte L, Van Calcar S, Heighway S, Bankowski H, Williams P, Rice G.

JIMD Rep. 2012;6:15-20. doi: 10.1007/8904_2011_95. Epub 2012 Jan 31.

17.
18.

Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria.

MacLeod EL, Clayton MK, van Calcar SC, Ney DM.

Mol Genet Metab. 2010 Aug;100(4):303-8. doi: 10.1016/j.ymgme.2010.04.003. Epub 2010 Apr 14.

19.

Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes.

MacLeod EL, Gleason ST, van Calcar SC, Ney DM.

Mol Genet Metab. 2009 Dec;98(4):331-7. doi: 10.1016/j.ymgme.2009.07.016. Epub 2009 Aug 8.

20.

Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids.

van Calcar SC, MacLeod EL, Gleason ST, Etzel MR, Clayton MK, Wolff JA, Ney DM.

Am J Clin Nutr. 2009 Apr;89(4):1068-77. doi: 10.3945/ajcn.2008.27280. Epub 2009 Feb 25. Erratum in: Am J Clin Nutr. 2010 Apr;91(4):1072.

21.

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.

J Inherit Metab Dis. 2009 Feb;32(1):32-9. doi: 10.1007/s10545-008-0952-4. Epub 2008 Oct 29. Review.

22.
23.

Acceptable low-phenylalanine foods and beverages can be made with glycomacropeptide from cheese whey for individuals with PKU.

Lim K, van Calcar SC, Nelson KL, Gleason ST, Ney DM.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):176-8. Epub 2007 Jul 23.

24.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

ENCODE Project Consortium, Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, Weng Z, Snyder M, Dermitzakis ET, Thurman RE, Kuehn MS, Taylor CM, Neph S, Koch CM, Asthana S, Malhotra A, Adzhubei I, Greenbaum JA, Andrews RM, Flicek P, Boyle PJ, Cao H, Carter NP, Clelland GK, Davis S, Day N, Dhami P, Dillon SC, Dorschner MO, Fiegler H, Giresi PG, Goldy J, Hawrylycz M, Haydock A, Humbert R, James KD, Johnson BE, Johnson EM, Frum TT, Rosenzweig ER, Karnani N, Lee K, Lefebvre GC, Navas PA, Neri F, Parker SC, Sabo PJ, Sandstrom R, Shafer A, Vetrie D, Weaver M, Wilcox S, Yu M, Collins FS, Dekker J, Lieb JD, Tullius TD, Crawford GE, Sunyaev S, Noble WS, Dunham I, Denoeud F, Reymond A, Kapranov P, Rozowsky J, Zheng D, Castelo R, Frankish A, Harrow J, Ghosh S, Sandelin A, Hofacker IL, Baertsch R, Keefe D, Dike S, Cheng J, Hirsch HA, Sekinger EA, Lagarde J, Abril JF, Shahab A, Flamm C, Fried C, Hackermüller J, Hertel J, Lindemeyer M, Missal K, Tanzer A, Washietl S, Korbel J, Emanuelsson O, Pedersen JS, Holroyd N, Taylor R, Swarbreck D, Matthews N, Dickson MC, Thomas DJ, Weirauch MT, Gilbert J, Drenkow J, Bell I, Zhao X, Srinivasan KG, Sung WK, Ooi HS, Chiu KP, Foissac S, Alioto T, Brent M, Pachter L, Tress ML, Valencia A, Choo SW, Choo CY, Ucla C, Manzano C, Wyss C, Cheung E, Clark TG, Brown JB, Ganesh M, Patel S, Tammana H, Chrast J, Henrichsen CN, Kai C, Kawai J, Nagalakshmi U, Wu J, Lian Z, Lian J, Newburger P, Zhang X, Bickel P, Mattick JS, Carninci P, Hayashizaki Y, Weissman S, Hubbard T, Myers RM, Rogers J, Stadler PF, Lowe TM, Wei CL, Ruan Y, Struhl K, Gerstein M, Antonarakis SE, Fu Y, Green ED, Karaöz U, Siepel A, Taylor J, Liefer LA, Wetterstrand KA, Good PJ, Feingold EA, Guyer MS, Cooper GM, Asimenos G, Dewey CN, Hou M, Nikolaev S, Montoya-Burgos JI, Löytynoja A, Whelan S, Pardi F, Massingham T, Huang H, Zhang NR, Holmes I, Mullikin JC, Ureta-Vidal A, Paten B, Seringhaus M, Church D, Rosenbloom K, Kent WJ, Stone EA; NISC Comparative Sequencing Program; Baylor College of Medicine Human Genome Sequencing Center; Washington University Genome Sequencing Center; Broad Institute; Children's Hospital Oakland Research Institute, Batzoglou S, Goldman N, Hardison RC, Haussler D, Miller W, Sidow A, Trinklein ND, Zhang ZD, Barrera L, Stuart R, King DC, Ameur A, Enroth S, Bieda MC, Kim J, Bhinge AA, Jiang N, Liu J, Yao F, Vega VB, Lee CW, Ng P, Shahab A, Yang A, Moqtaderi Z, Zhu Z, Xu X, Squazzo S, Oberley MJ, Inman D, Singer MA, Richmond TA, Munn KJ, Rada-Iglesias A, Wallerman O, Komorowski J, Fowler JC, Couttet P, Bruce AW, Dovey OM, Ellis PD, Langford CF, Nix DA, Euskirchen G, Hartman S, Urban AE, Kraus P, Van Calcar S, Heintzman N, Kim TH, Wang K, Qu C, Hon G, Luna R, Glass CK, Rosenfeld MG, Aldred SF, Cooper SJ, Halees A, Lin JM, Shulha HP, Zhang X, Xu M, Haidar JN, Yu Y, Ruan Y, Iyer VR, Green RD, Wadelius C, Farnham PJ, Ren B, Harte RA, Hinrichs AS, Trumbower H, Clawson H, Hillman-Jackson J, Zweig AS, Smith K, Thakkapallayil A, Barber G, Kuhn RM, Karolchik D, Armengol L, Bird CP, de Bakker PI, Kern AD, Lopez-Bigas N, Martin JD, Stranger BE, Woodroffe A, Davydov E, Dimas A, Eyras E, Hallgrímsdóttir IB, Huppert J, Zody MC, Abecasis GR, Estivill X, Bouffard GG, Guan X, Hansen NF, Idol JR, Maduro VV, Maskeri B, McDowell JC, Park M, Thomas PJ, Young AC, Blakesley RW, Muzny DM, Sodergren E, Wheeler DA, Worley KC, Jiang H, Weinstock GM, Gibbs RA, Graves T, Fulton R, Mardis ER, Wilson RK, Clamp M, Cuff J, Gnerre S, Jaffe DB, Chang JL, Lindblad-Toh K, Lander ES, Koriabine M, Nefedov M, Osoegawa K, Yoshinaga Y, Zhu B, de Jong PJ.

Nature. 2007 Jun 14;447(7146):799-816.

25.

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.

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

26.

Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome.

Heintzman ND, Stuart RK, Hon G, Fu Y, Ching CW, Hawkins RD, Barrera LO, Van Calcar S, Qu C, Ching KA, Wang W, Weng Z, Green RD, Crawford GE, Ren B.

Nat Genet. 2007 Mar;39(3):311-8. Epub 2007 Feb 4.

PMID:
17277777
27.

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.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):124-33. Epub 2005 Jul 22.

28.

Direct isolation and identification of promoters in the human genome.

Kim TH, Barrera LO, Qu C, Van Calcar S, Trinklein ND, Cooper SJ, Luna RM, Glass CK, Rosenfeld MG, Myers RM, Ren B.

Genome Res. 2005 Jun;15(6):830-9. Epub 2005 May 17.

29.

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.

Pediatrics. 2003 Jul;112(1 Pt 1):74-8. Review.

PMID:
12837870
30.

A global transcriptional regulatory role for c-Myc in Burkitt's lymphoma cells.

Li Z, Van Calcar S, Qu C, Cavenee WK, Zhang MQ, Ren B.

Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8164-9. Epub 2003 Jun 13.

31.

Biotinidase catalyzes debiotinylation of histones.

Ballard TD, Wolff J, Griffin JB, Stanley JS, van Calcar S, Zempleni J.

Eur J Nutr. 2002 Apr;41(2):78-84.

PMID:
12083317
32.

L-carnitine administration reduces number of episodes in cyclic vomiting syndrome.

Van Calcar SC, Harding CO, Wolff JA.

Clin Pediatr (Phila). 2002 Apr;41(3):171-4.

PMID:
11999680
33.

Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Harding CO, Gillingham MB, van Calcar SC, Wolff JA, Verhoeve JN, Mills MD.

J Inherit Metab Dis. 1999 May;22(3):276-80. No abstract available.

34.

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.

Gillingham M, Van Calcar S, Ney D, Wolff J, Harding C.

J Inherit Metab Dis. 1999 Apr;22(2):123-31.

35.

Renal transplantation in a patient with methylmalonic acidaemia.

Van Calcar SC, Harding CO, Lyne P, Hogan K, Banerjee R, Sollinger H, Rieselbach RE, Wolff JA.

J Inherit Metab Dis. 1998 Oct;21(7):729-37.

PMID:
9819702
36.

Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.

Van Calcar SC, Harding CO, Davidson SR, Barness LA, Wolff JA.

Am J Med Genet. 1992 Nov 15;44(5):641-6.

PMID:
1481826
37.

Dietary fiber and long-term large bowel response in enterally nourished nonambulatory profoundly retarded youth.

Liebl BH, Fischer MH, Van Calcar SC, Marlett JA.

JPEN J Parenter Enteral Nutr. 1990 Jul-Aug;14(4):371-5.

PMID:
2169536
38.

Long-term nutritional status of an enterally nourished institutionalized population.

Van Calcar SC, Liebl BH, Fischer MH, Marlett JA.

Am J Clin Nutr. 1989 Aug;50(2):381-90.

PMID:
2547301

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