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Items: 1 to 20 of 153

1.

Erratum: Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease.

Wang G, Young SP, Bali D, Hutt J, Li S, Benson J, Koeberl DD.

Mol Ther Methods Clin Dev. 2019 May 30;13:493. doi: 10.1016/j.omtm.2019.05.001. eCollection 2019 Jun 14.

2.

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.

Halaby CA, Young SP, Austin S, Stefanescu E, Bali D, Clinton LK, Smith B, Pendyal S, Upadia J, Schooler GR, Mavis AM, Kishnani PS.

Genet Med. 2019 Jul 2. doi: 10.1038/s41436-019-0561-7. [Epub ahead of print]

PMID:
31263214
3.

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Taylor JL, Clinard K, Powell CM, Rehder C, Young SP, Bali D, Beckloff SE, Gehtland LM, Kemper AR, Lee S, Millington D, Patel HS, Shone SM, Woodell C, Zimmerman SJ, Bailey DB Jr, Muenzer J.

J Pediatr. 2019 Aug;211:193-200.e2. doi: 10.1016/j.jpeds.2019.04.027. Epub 2019 May 24.

PMID:
31133280
4.

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.

Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN.

J Inherit Metab Dis. 2019 May;42(3):424-437. doi: 10.1002/jimd.12085. Epub 2019 Apr 11.

PMID:
30873612
5.

Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia.

Kang HR, Waskowicz L, Seifts AM, Landau DJ, Young SP, Koeberl DD.

Mol Ther Methods Clin Dev. 2019 Feb 10;13:265-273. doi: 10.1016/j.omtm.2019.02.002. eCollection 2019 Jun 14.

6.

Can metabolomic profiling predict response to therapy?

McGrath CM, Young SP.

Nat Rev Rheumatol. 2019 Mar;15(3):129-130. doi: 10.1038/s41584-018-0136-z. No abstract available.

PMID:
30531855
7.

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.

Waskowicz LR, Zhou J, Landau DJ, Brooks ED, Lim A, Yavarow ZA, Kudo T, Zhang H, Wu Y, Grant S, Young SP, Huat BB, Yen PM, Koeberl DD.

Hum Mol Genet. 2019 Jan 1;28(1):143-154. doi: 10.1093/hmg/ddy343.

PMID:
30256948
8.

Acetyl-l-carnitine deficiency in patients with major depressive disorder.

Nasca C, Bigio B, Lee FS, Young SP, Kautz MM, Albright A, Beasley J, Millington DS, Mathé AA, Kocsis JH, Murrough JW, McEwen BS, Rasgon N.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):8627-8632. doi: 10.1073/pnas.1801609115. Epub 2018 Jul 30.

9.

Review: Synovial Cell Metabolism and Chronic Inflammation in Rheumatoid Arthritis.

Falconer J, Murphy AN, Young SP, Clark AR, Tiziani S, Guma M, Buckley CD.

Arthritis Rheumatol. 2018 Jul;70(7):984-999. doi: 10.1002/art.40504. Epub 2018 Jun 4. Review.

10.

Metabolomics in the Analysis of Inflammatory Diseases.

Kapoor S, Fitzpatrick M, Clay E, Bayley R, Wallace GR, Young SP.

In: Roessner U, editor. Metabolomics [Internet]. Rijeka (HR): InTech; 2012 Feb 10. Chapter 11.

11.

Changes in urinary metabolomic profile during relapsing renal vasculitis.

Al-Ani B, Fitzpatrick M, Al-Nuaimi H, Coughlan AM, Hickey FB, Pusey CD, Savage C, Benton CM, O'Brien EC, O'Toole D, Mok KH, Young SP, Little MA.

Sci Rep. 2016 Dec 1;6:38074. doi: 10.1038/srep38074.

12.

Metabolomics to identify biomarkers and as a predictive tool in inflammatory diseases.

Jutley GS, Young SP.

Best Pract Res Clin Rheumatol. 2015 Dec;29(6):770-82. doi: 10.1016/j.berh.2016.02.010. Epub 2016 Apr 4. Review.

PMID:
27107512
13.

Bactericidal Immunity to Salmonella in Africans and Mechanisms Causing Its Failure in HIV Infection.

Goh YS, Necchi F, O'Shaughnessy CM, Micoli F, Gavini M, Young SP, Msefula CL, Gondwe EN, Mandala WL, Gordon MA, Saul AJ, MacLennan CA.

PLoS Negl Trop Dis. 2016 Apr 8;10(4):e0004604. doi: 10.1371/journal.pntd.0004604. eCollection 2016 Apr.

14.

Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.

Mori M, Goldstein J, Young SP, Bossen EH, Shoffner J, Koeberl DD.

Mol Genet Metab Rep. 2015 Jun 30;4:39-41. doi: 10.1016/j.ymgmr.2015.06.001. eCollection 2015 Sep.

15.

Natural Progression of Canine Glycogen Storage Disease Type IIIa.

Brooks ED, Yi H, Austin SL, Thurberg BL, Young SP, Fyfe JC, Kishnani PS, Sun B.

Comp Med. 2016 Feb;66(1):41-51.

16.

Metabolomics in rheumatology.

Kapoor SR, McGrath CM, Fitzpatrick MA, Young SP.

Rheumatology (Oxford). 2015 Dec;54(12):2124-5. doi: 10.1093/rheumatology/kev334. Epub 2015 Sep 11. No abstract available.

PMID:
26361880
17.

Lipid and Metabolic Changes in Rheumatoid Arthritis.

McGrath CM, Young SP.

Curr Rheumatol Rep. 2015 Sep;17(9):57. doi: 10.1007/s11926-015-0534-z. Review.

PMID:
26210510
18.

Corrigendum to "Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease".

Wang G, Young SP, Bali D, Hutt J, Li S, Benson J, Koeberl DD.

Mol Ther Methods Clin Dev. 2015 Feb 18;2:15002. doi: 10.1038/mtm.2015.2. eCollection 2015.

19.

Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease.

Nilsson MI, MacNeil LG, Kitaoka Y, Suri R, Young SP, Kaczor JJ, Nates NJ, Ansari MU, Wong T, Ahktar M, Brandt L, Hettinga BP, Tarnopolsky MA.

Free Radic Biol Med. 2015 Oct;87:98-112. doi: 10.1016/j.freeradbiomed.2015.05.019. Epub 2015 May 19.

PMID:
26001726
20.

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP.

JIMD Rep. 2015;19:67-73. doi: 10.1007/8904_2014_366. Epub 2015 Feb 15.

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