Whitley CB - Search Results

1

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.

2

A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome.

Whitley CB, Gorlin RJ, Krivit W. Whitley CB, et al. Am J Med Genet. 1987 Sep;28(1):233-43. doi: 10.1002/ajmg.1320280136. Am J Med Genet. 1987. PMID: 3118714 Review.

3

Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

Aronovich EL, Pan D, Whitley CB. Aronovich EL, et al. Among authors: whitley cb. Am J Hum Genet. 1996 Jan;58(1):75-85. Am J Hum Genet. 1996. PMID: 8554071 Free PMC article.

4

"Supercharged Cells" for delivery of recombinant human iduronate-2-sulfatase.

Pan D, Jonsson JJ, Braun SE, McIvor RS, Whitley CB. Pan D, et al. Among authors: whitley cb. Mol Genet Metab. 2000 Jul;70(3):170-8. doi: 10.1006/mgme.2000.3012. Mol Genet Metab. 2000. PMID: 10924271

5

Urinary glycosaminoglycan excretion quantified by an automated semimicro method in specimens conveniently transported from around the globe.

Whitley CB, Spielmann RC, Herro G, Teragawa SS. Whitley CB, et al. Mol Genet Metab. 2002 Jan;75(1):56-64. doi: 10.1006/mgme.2001.3271. Mol Genet Metab. 2002. PMID: 11825064

6

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

7

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.

8

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.

9

Lysosomal Disease Network's WORLD Symposium™ 2013.

Whitley C. Whitley C. Mol Genet Metab. 2013 Feb;108(2):S2-7. doi: 10.1016/j.ymgme.2012.12.003. Epub 2012 Dec 25. Mol Genet Metab. 2013. PMID: 23333027 No abstract available.

10

High-dose enzyme replacement therapy in murine Hurler syndrome.

Ou L, Herzog T, Koniar BL, Gunther R, Whitley CB. Ou L, et al. Among authors: whitley cb. Mol Genet Metab. 2014 Feb;111(2):116-22. doi: 10.1016/j.ymgme.2013.09.008. Epub 2013 Sep 19. Mol Genet Metab. 2014. PMID: 24100243 Free PMC article.

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