Whitley CB - Search Results

1

Whitley CB. Whitley CB. Mol Genet Metab. 2024 Feb;141(2):108107. doi: 10.1016/j.ymgme.2023.108107. Epub 2023 Dec 12. Mol Genet Metab. 2024. PMID: 38155037 No abstract available.

2

Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA.

Shapiro EG, Eisengart JB, Whiteman D, Whitley CB. Shapiro EG, et al. Among authors: whitley cb. Mol Genet Metab. 2024 Feb;141(2):108110. doi: 10.1016/j.ymgme.2023.108110. Epub 2023 Dec 15. Mol Genet Metab. 2024. PMID: 38151384

3

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.

Májovská J, Nestrašil I, Ahmed A, Bondy MT, Klempíř J, Jahnová H, Schneider SA, Horáková D, Krásenský J, Ješina P, Vaneckova M, Nascene DR, Whitley CB, Jarnes JR, Magner M, Dušek P. Májovská J, et al. Among authors: whitley cb. J Inherit Metab Dis. 2024 Mar;47(2):327-339. doi: 10.1002/jimd.12700. Epub 2023 Dec 19. J Inherit Metab Dis. 2024. PMID: 38112342

4

Mapping brain networks in MPS I mice and their restoration following gene therapy.

Zhu W, Ou L, Zhang L, Clark IH, Zhang Y, Zhu XH, Whitley CB, Hackett PB, Low WC, Chen W. Zhu W, et al. Among authors: whitley cb. Sci Rep. 2023 Aug 5;13(1):12716. doi: 10.1038/s41598-023-39939-0. Sci Rep. 2023. PMID: 37543633 Free PMC article.

5

Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.

Pillai NR, Fabie NAV, Kaye TV, Rosendahl SD, Ahmed A, Hietala AD, Jorgenson AB, Lanpher BC, Whitley CB. Pillai NR, et al. Among authors: whitley cb. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107633. doi: 10.1016/j.ymgme.2023.107633. Epub 2023 Jun 25. Mol Genet Metab. 2023. PMID: 37414610

6

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study.

Miller BS, Fung EB, White KK, Lund TC, Harmatz P, Orchard PJ, Whitley CB, Polgreen LE. Miller BS, et al. Among authors: whitley cb. J Inherit Metab Dis. 2023 Jul;46(4):695-704. doi: 10.1002/jimd.12598. Epub 2023 Mar 6. J Inherit Metab Dis. 2023. PMID: 36840680 Free PMC article.

7

Sanfilippo syndrome: consensus guidelines for clinical care.

Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group. Muschol N, et al. Among authors: whitley cb. Orphanet J Rare Dis. 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6. Orphanet J Rare Dis. 2022. PMID: 36303195 Free PMC article. Review.

8

Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system.

Kim S, Przybilla MJ, Whitley CB, Ou L, Al-Kofahi M, Jarnes JR. Kim S, et al. Among authors: whitley cb. Mol Genet Metab Rep. 2022 Sep 18;33:100917. doi: 10.1016/j.ymgmr.2022.100917. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36159322 Free PMC article.

9

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.

Pillai NR, Ahmed A, Vanyo T, Whitley CB. Pillai NR, et al. Among authors: whitley cb. Genes (Basel). 2022 Jul 22;13(8):1293. doi: 10.3390/genes13081293. Genes (Basel). 2022. PMID: 35893030 Free PMC article. Review.

10

Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes.

Ahmed A, Rudser K, King KE, Eisengart JB, Orchard PJ, Shapiro E, Whitley CB. Ahmed A, et al. Among authors: whitley cb. Mol Genet Metab. 2022 May;136(1):22-27. doi: 10.1016/j.ymgme.2022.03.003. Epub 2022 Mar 10. Mol Genet Metab. 2022. PMID: 35304037 Free PMC article.

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