Whitley CB - Search Results

1

START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.

Utz JR, Lorentz CP, Markowitz D, Rudser KD, Diethelm-Okita B, Erickson D, Whitley CB. Utz JR, et al. Among authors: whitley cb. Mol Genet Metab. 2012 Feb;105(2):193-7. doi: 10.1016/j.ymgme.2011.10.014. Epub 2011 Oct 29. Mol Genet Metab. 2012. PMID: 22112818 Clinical Trial.

2

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.

Ahrens MJ, Berry SA, Whitley CB, Markowitz DJ, Plante RJ, Tuchman M. Ahrens MJ, et al. Among authors: whitley cb. Am J Med Genet. 1996 Dec 18;66(3):311-5. doi: 10.1002/(SICI)1096-8628(19961218)66:3<311::AID-AJMG14>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8985493

3

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

Levy HL, Milanowski A, Chakrapani A, Cleary M, Lee P, Trefz FK, Whitley CB, Feillet F, Feigenbaum AS, Bebchuk JD, Christ-Schmidt H, Dorenbaum A; Sapropterin Research Group. Levy HL, et al. Among authors: whitley cb. Lancet. 2007 Aug 11;370(9586):504-10. doi: 10.1016/S0140-6736(07)61234-3. Lancet. 2007. PMID: 17693179 Clinical Trial.

4

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.

Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB; Sapropterin Study Group. Trefz FK, et al. Among authors: whitley cb. J Pediatr. 2009 May;154(5):700-7. doi: 10.1016/j.jpeds.2008.11.040. Epub 2009 Mar 4. J Pediatr. 2009. PMID: 19261295 Clinical Trial.

5

Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): a single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation.

Whitley CB, Utz JR. Whitley CB, et al. Mol Genet Metab. 2010 Dec;101(4):346-8. doi: 10.1016/j.ymgme.2010.07.015. Epub 2010 Aug 1. Mol Genet Metab. 2010. PMID: 20800524

6

An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT).

Shapiro E, Guler OE, Rudser K, Delaney K, Bjoraker K, Whitley C, Tolar J, Orchard P, Provenzale J, Thomas KM. Shapiro E, et al. Mol Genet Metab. 2012 Sep;107(1-2):116-21. doi: 10.1016/j.ymgme.2012.07.016. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22867884 Free PMC article.

7

Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome.

Eisengart JB, Rudser KD, Tolar J, Orchard PJ, Kivisto T, Ziegler RS, Whitley CB, Shapiro EG. Eisengart JB, et al. Among authors: whitley cb. J Pediatr. 2013 Feb;162(2):375-80.e1. doi: 10.1016/j.jpeds.2012.07.052. Epub 2012 Sep 10. J Pediatr. 2013. PMID: 22974573 Free PMC article.

8

Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome.

Potegal M, Yund B, Rudser K, Ahmed A, Delaney K, Nestrasil I, Whitley CB, Shapiro EG. Potegal M, et al. Among authors: whitley cb. J Clin Exp Neuropsychol. 2013;35(6):608-16. doi: 10.1080/13803395.2013.804035. Epub 2013 Jun 8. J Clin Exp Neuropsychol. 2013. PMID: 23745734 Free PMC article.

9

Standardization of α-L-iduronidase enzyme assay with Michaelis-Menten kinetics.

Ou L, Herzog TL, Wilmot CM, Whitley CB. Ou L, et al. Among authors: whitley cb. Mol Genet Metab. 2014 Feb;111(2):113-5. doi: 10.1016/j.ymgme.2013.11.009. Epub 2013 Nov 26. Mol Genet Metab. 2014. PMID: 24332804 Free PMC article.

10

Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome.

Polgreen LE, Thomas W, Orchard PJ, Whitley CB, Miller BS. Polgreen LE, et al. Among authors: whitley cb. Mol Genet Metab. 2014 Feb;111(2):101-6. doi: 10.1016/j.ymgme.2013.11.013. Epub 2013 Dec 11. Mol Genet Metab. 2014. PMID: 24368158 Free PMC article.

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