Sarah Phyllis Young
Professor of Pediatrics
As a clinical biochemical geneticist and a director of the Duke Biochemical Genetics laboratory, my research interests are focused on improving laboratory diagnostics for rare inherited disorders of metabolism. I am actively involved in the development of assays using mass spectrometry and other analytical techniques. My current research on biomarkers for lysosomal storage disorders, such as Fabry and Pompe disease and the mucopolysaccharidoses includes monitoring the response to novel therapies in patients. I also have an interest in neurometabolic disorders such as the creatine deficiency syndromes and sulfite oxidase and molybdenum cofactors. These disorders can be diagnosed using liquid chromatography-tandem mass spectrometric assays that measure biomarkers in urine. Guanidinoacetate methyltransferase deficiency is a disorder that can be detected in the newborn period and is amenable to dietary therapy, and is thus a good candidate for newborn screening.
Current Research Interests
Biomarkers for lysosomal storage disorders
Current Appointments & Affiliations
- Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2021
Contact Information
- 801 Capitola Drive, Suite 6, Durham, NC 27713
- Box 103856, Durham, NC 27710
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sarah.young@duke.edu
(919) 684-4259
- Background
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Education, Training, & Certifications
- Ph.D., Institute of Child Health (United Kingdom) 1997
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Duke Appointment History
- Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2019 - 2020
- Associate Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2016 - 2019
- Assistant Professor in Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2009 - 2016
- Expertise
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Subject Headings
- Research
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Selected Grants
- Biomarker studies in plasma from patients with Gaucher disease awarded by Shire Human Genetics Therapies 2018 - 2025
- Identifying Pathogenic Non-Coding Mutations in Rare Mendelian Disease awarded by National Institutes of Health 2019 - 2022
- Urinary Glc4 as a Marker of Glycogen Synthesis awarded by Maze Therapeutics 2021
- Measurement of acylcarnitine, carnitine, and acetyl-L-carnitine levels in coded samples awarded by Rockefeller University 2017 - 2021
- Investigating Autophagy in GSD-Ia awarded by National Institutes of Health 2020 - 2021
- Pharmacodynamic study using rhaGLU in a Pompe mouse model. Nonclinical GAA-KO mouse study design proposal rhaGLU awarded by Pharming Group N.V. 2019 - 2021
- GSD III Clinical Data Manuscript Preparation awarded by Ultragenyx Pharmaceutical 2019 - 2021
- Measurement of acylcarnitine, carnitine, and acetyl-L-carnitine levels in coded samples from subjects with depressive episodes awarded by Rockefeller University 2015 - 2020
- Investigating Autophagy in GSD-Ia awarded by National Institutes of Health 2015 - 2020
- A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease awarded by National Institutes of Health 2017 - 2020
- Potency Assays awarded by Actus Therapeutics 2018 - 2019
- Intraarticular Gene Therapy for Canine Mucopolysaccharidosis Type I Joint Disease awarded by Childrens Hospital of Orange County 2017 - 2019
- Gender and APOE genotype interact to alter immune regulated metabolism in AD awarded by National Institutes of Health 2017 - 2019
- Activity and Biodistribution of the AAV2/8-LSPhGAA in GAA-knockout mice awarded by Actus Therapeutics 2018
- Gastrin-Releasing Peptide and Bronchopulmonary Dysplasia awarded by National Institutes of Health 2011 - 2018
- Analysis of a urinary glucose tetrasaccharide in a mouse model of Pompe disease awarded by Amicus Therapeutics Corporation 2017 - 2018
- Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease awarded by Roivant Sciences, Inc. 2015 - 2016
- Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease awarded by Food and Drug Administration 2013 - 2016
- Clinical Trial Planning in Pompe Disease awarded by National Institutes of Health 2013 - 2014
- Urinary F2-isoprostanes as a new biomarker for the risk of type 2 diabetes awarded by National Institutes of Health 2009 - 2013
- Mechanisms for immune tolerance in Pompe Disease awarded by National Institutes of Health 2009 - 2011
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External Relationships
- PTC Therapeutics
- Research Triangle Institute (aka RTI International)
- Publications & Artistic Works
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Selected Publications
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Academic Articles
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Young, S. P., Khan, A., Stefanescu, E., Seifts, A. M., Hijazi, G., Austin, S., & Kishnani, P. S. (2021). Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III. Jimd Rep, 58(1), 37–43. https://doi.org/10.1002/jmd2.12181Full Text Link to Item
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Miller, M. J., Cusmano-Ozog, K., Oglesbee, D., Young, S., & ACMG Laboratory Quality Assurance Committee, . (2021). Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med, 23(2), 249–258. https://doi.org/10.1038/s41436-020-00990-1Full Text Link to Item
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Beasley, J., McCaw, P., Zhang, H., Young, S. P., & Stiles, A. R. (2020). Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS. Clin Chim Acta, 511, 132–137. https://doi.org/10.1016/j.cca.2020.10.007Full Text Link to Item
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Young, S. P., Khan, A. A., Austin, S. L., & Kishnani, P. S. (2020). Response to Heiner-Fokkema et al. Genet Med, 22(11), 1917–1918. https://doi.org/10.1038/s41436-020-0879-1Full Text Link to Item
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Zhang, H., Dickson, P. I., Stiles, A. R., Chen, A. H., Le, S. Q., McCaw, P., … Young, S. P. (2020). Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy. Clin Chim Acta, 508, 179–184. https://doi.org/10.1016/j.cca.2020.05.035Full Text Link to Item
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Stiles, A. R., Zhang, H., Dai, J., McCaw, P., Beasley, J., Rehder, C., … Young, S. P. (2020). A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females. Mol Genet Metab, 130(3), 209–214. https://doi.org/10.1016/j.ymgme.2020.04.006Full Text Link to Item
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Han, S.-O., Li, S., McCall, A., Arnson, B., Everitt, J. I., Zhang, H., … Koeberl, D. D. (2020). Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease. Mol Ther Methods Clin Dev, 17, 133–142. https://doi.org/10.1016/j.omtm.2019.11.020Full Text Link to Item
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Piraud, M., Pettazzoni, M., de Antonio, M., Vianey-Saban, C., Froissart, R., Chabrol, B., … French Pompe study group, . (2020). Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort. Mol Genet Metab Rep, 23, 100583. https://doi.org/10.1016/j.ymgmr.2020.100583Full Text Link to Item
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Khan, A. A., Case, L. E., Herbert, M., DeArmey, S., Jones, H., Crisp, K., … Kishnani, P. S. (2020). Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. Genet Med, 22(5), 898–907. https://doi.org/10.1038/s41436-019-0738-0Full Text Link to Item
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Voynow, J. A., Fisher, K., Sunday, M. E., Cotten, C. M., Hamvas, A., Hendricks-Muñoz, K. D., … Davis, S. D. (2020). Urine gastrin-releasing peptide in the first week correlates with bronchopulmonary dysplasia and post-prematurity respiratory disease. Pediatr Pulmonol, 55(4), 899–908. https://doi.org/10.1002/ppul.24665Full Text Link to Item
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Chen, A. H., Harmatz, P., Nestrasil, I., Eisengart, J. B., King, K. E., Rudser, K., … Dickson, P. I. (2020). Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study. Mol Genet Metab, 129(2), 80–90. https://doi.org/10.1016/j.ymgme.2019.11.007Full Text Link to Item
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Koeberl, D. D., Case, L. E., Desai, A., Smith, E. C., Walters, C., Han, S.-O., … Kishnani, P. S. (2020). Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease. Mol Genet Metab, 129(2), 67–72. https://doi.org/10.1016/j.ymgme.2019.12.008Full Text Link to Item
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Halaby, C. A., Young, S. P., Austin, S., Stefanescu, E., Bali, D., Clinton, L. K., … Kishnani, P. S. (2019). Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. Genet Med, 21(12), 2686–2694. https://doi.org/10.1038/s41436-019-0561-7Full Text Link to Item
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Yeo, T. W., Bush, P. A., Chen, Y., Young, S. P., Zhang, H., Millington, D. S., … Weinberg, J. B. (2019). Glycocalyx breakdown is increased in African children with cerebral and uncomplicated falciparum malaria. Faseb J, 33(12), 14185–14193. https://doi.org/10.1096/fj.201901048RRFull Text Link to Item
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Yeo, T. W., Weinberg, J. B., Lampah, D. A., Kenangalem, E., Bush, P., Chen, Y., … Anstey, N. M. (2019). Glycocalyx Breakdown Is Associated With Severe Disease and Fatal Outcome in Plasmodium falciparum Malaria. Clin Infect Dis, 69(10), 1712–1720. https://doi.org/10.1093/cid/ciz038Full Text Link to Item
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Taylor, J. L., Clinard, K., Powell, C. M., Rehder, C., Young, S. P., Bali, D., … Muenzer, J. (2019). The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening. The Journal of Pediatrics, 211, 193-200.e2. https://doi.org/10.1016/j.jpeds.2019.04.027Full Text
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Kang, H.-R., Waskowicz, L., Seifts, A. M., Landau, D. J., Young, S. P., & Koeberl, D. D. (2019). Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia. Mol Ther Methods Clin Dev, 13, 265–273. https://doi.org/10.1016/j.omtm.2019.02.002Full Text Link to Item
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Wang, G., Young, S. P., Bali, D., Hutt, J., Li, S., Benson, J., & Koeberl, D. D. (2019). Erratum: Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease. Mol Ther Methods Clin Dev, 13, 493. https://doi.org/10.1016/j.omtm.2019.05.001Full Text Link to Item
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Van Hove, J. L. K., Freehauf, C. L., Ficicioglu, C., Pena, L. D. M., Moreau, K. L., Henthorn, T. K., … MacLean, K. N. (2019). 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. J Inherit Metab Dis, 42(3), 424–437. https://doi.org/10.1002/jimd.12085Full Text Link to Item
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Rubach, M. P., Zhang, H., Florence, S. M., Mukemba, J. P., Kalingonji, A. R., Anstey, N. M., … Granger, D. L. (2019). Kinetic and Cross-Sectional Studies on the Genesis of Hypoargininemia in Severe Pediatric Plasmodium falciparum Malaria. Infect Immun, 87(4). https://doi.org/10.1128/IAI.00655-18Full Text Link to Item
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Waskowicz, L. R., Zhou, J., Landau, D. J., Brooks, E. D., Lim, A., Yavarow, Z. A., … Koeberl, D. D. (2019). Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia. Hum Mol Genet, 28(1), 143–154. https://doi.org/10.1093/hmg/ddy343Full Text Link to Item
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Sharer, J. D., De Biase, I., Matern, D., Young, S., Bennett, M. J., Tolun, A. A., & ACMG Laboratory Quality AssuranceCommittee, . (2018). Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med, 20(12), 1499–1507. https://doi.org/10.1038/s41436-018-0328-6Full Text Link to Item
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Nasca, C., Bigio, B., Lee, F. S., Young, S. P., Kautz, M. M., Albright, A., … Rasgon, N. (2018). Acetyl-l-carnitine deficiency in patients with major depressive disorder. Proc Natl Acad Sci U S A, 115(34), 8627–8632. https://doi.org/10.1073/pnas.1801609115Full Text Link to Item
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Sharer, J. D., Bodamer, O., Longo, N., Tortorelli, S., Wamelink, M. M. C., & Young, S. (2017). Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. Genet Med, 19(2), 256–263. https://doi.org/10.1038/gim.2016.203Full Text Link to Item
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Sampat, R., Young, S., Rosen, A., Bernhard, D., Millington, D., Factor, S., & Jinnah, H. A. (2016). Potential mechanisms for low uric acid in Parkinson disease. J Neural Transm (Vienna), 123(4), 365–370. https://doi.org/10.1007/s00702-015-1503-4Full Text Link to Item
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Brooks, E. D., Yi, H., Austin, S. L., Thurberg, B. L., Young, S. P., Fyfe, J. C., … Sun, B. (2016). Natural Progression of Canine Glycogen Storage Disease Type IIIa. Comp Med, 66(1), 41–51.Open Access Copy Link to Item
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Nilsson, M. I., MacNeil, L. G., Kitaoka, Y., Suri, R., Young, S. P., Kaczor, J. J., … Tarnopolsky, M. A. (2015). Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease. Free Radic Biol Med, 87, 98–112. https://doi.org/10.1016/j.freeradbiomed.2015.05.019Full Text Link to Item
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Mori, M., Goldstein, J., Young, S. P., Bossen, E. H., Shoffner, J., & Koeberl, D. D. (2015). Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis. Mol Genet Metab Rep, 4, 39–41. https://doi.org/10.1016/j.ymgmr.2015.06.001Full Text Link to Item
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Zhang, H., Wood, T., Young, S. P., & Millington, D. S. (2015). A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses. Mol Genet Metab, 114(2), 123–128. https://doi.org/10.1016/j.ymgme.2014.09.009Full Text Link to Item
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Wang, G., Young, S. P., Bali, D., Hutt, J., Li, S., Benson, J., & Koeberl, D. D. (2015). Corrigendum to "Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease". Mol Ther Methods Clin Dev, 2, 15002. https://doi.org/10.1038/mtm.2015.2Full Text Link to Item
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Houten, S. M., Denis, S., Te Brinke, H., Jongejan, A., van Kampen, A. H. C., Bradley, E. J., … Wanders, R. J. A. (2014). Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet, 23(18), 5009–5016. https://doi.org/10.1093/hmg/ddu218Full Text Link to Item
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Farah, B. L., Madden, L., Li, S., Nance, S., Bird, A., Bursac, N., … Koeberl, D. D. (2014). Adjunctive β2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe disease. Faseb J, 28(5), 2272–2280. https://doi.org/10.1096/fj.13-244202Full Text Open Access Copy Link to Item
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Koeberl, D. D., Austin, S., Case, L. E., Smith, E. C., Buckley, A. F., Young, S. P., … Kishnani, P. S. (2014). Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. Faseb J, 28(5), 2171–2176. https://doi.org/10.1096/fj.13-241893Full Text Open Access Copy Link to Item
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Wang, G., Young, S. P., Bali, D., Hutt, J., Li, S., Benson, J., & Koeberl, D. D. (2014). Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease. Mol Ther Methods Clin Dev, 1, 14018. https://doi.org/10.1038/mtm.2014.18Full Text Open Access Copy Link to Item
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Manoli, I., Sysol, J. R., Li, L., Houillier, P., Garone, C., Wang, C., … Venditti, C. P. (2013). Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Proc Natl Acad Sci U S A, 110(33), 13552–13557. https://doi.org/10.1073/pnas.1302764110Full Text Link to Item
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El-Gharbawy, A. H., Goldstein, J. L., Millington, D. S., Vaisnins, A. E., Schlune, A., Barshop, B. A., … Young, S. P. (2013). Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab, 109(2), 215–217. https://doi.org/10.1016/j.ymgme.2013.03.003Full Text Link to Item
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Zhang, H., Young, S. P., & Millington, D. S. (2013). Quantification of glycosaminoglycans in urine by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. Curr Protoc Hum Genet, Chapter 17, Unit-17.12. https://doi.org/10.1002/0471142905.hg1712s76Full Text Link to Item
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Tolun, A. A., Scarbrough, P. M., Zhang, H., McKillop, J.-A., Wang, F., Kishnani, P. S., … Il’yasova, D. (2012). Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome. Ann Epidemiol, 22(12), 892–894. https://doi.org/10.1016/j.annepidem.2012.09.005Full Text Link to Item
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Yonee, C., Toyoshima, M., Young, S. P., Maruyama, S., Higuchi, I., Narita, A., … Kawano, Y. (2012). Quantitative computed tomography for enzyme replacement therapy in Pompe disease. Brain Dev, 34(10), 834–839. https://doi.org/10.1016/j.braindev.2012.01.013Full Text Link to Item
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Prater, S. N., Banugaria, S. G., DeArmey, S. M., Botha, E. G., Stege, E. M., Case, L. E., … Kishnani, P. S. (2012). The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med, 14(9), 800–810. https://doi.org/10.1038/gim.2012.44Full Text Link to Item
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Young, S. P., Zhang, H., Wood, T., Fu, H., Auray-Blais, C., Koeberl, D. D., & Millington, D. S. (2012). QUANTIFICATION OF GLYCOSAMINOGLYCANS IN HUMAN URINE AND MOUSE TISSUE BY UPLC-MS/MS. Journal of Inherited Metabolic Disease, 35, S88–S88.Link to Item
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Auray-Blais, C., Lavoie, P., Zhang, H., Gagnon, R., Clarke, J. T. R., Maranda, B., … Millington, D. S. (2012). An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper. Clin Chim Acta, 413(7–8), 771–778. https://doi.org/10.1016/j.cca.2012.01.012Full Text Link to Item
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Young, S. P., Piraud, M., Goldstein, J. L., Zhang, H., Rehder, C., Laforet, P., … Bali, D. S. (2012). Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. Am J Med Genet C Semin Med Genet, 160C(1), 50–58. https://doi.org/10.1002/ajmg.c.31320Full Text Link to Item
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Il’yasova, D., Spasojevic, I., Base, K., Zhang, H., Wang, F., Young, S. P., … Wagenknecht, L. E. (2012). Urinary F2-isoprostanes as a biomarker of reduced risk of type 2 diabetes. Diabetes Care, 35(1), 173–174. https://doi.org/10.2337/dc11-1502Full Text Link to Item
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Messinger, Y. H., Mendelsohn, N. J., Rhead, W., Dimmock, D., Hershkovitz, E., Champion, M., … Kishnani, P. S. (2012). Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med, 14(1), 135–142. https://doi.org/10.1038/gim.2011.4Full Text Link to Item
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Abbott, M.-A., Prater, S. N., Banugaria, S. G., Richards, S. M., Young, S. P., Rosenberg, A. S., & Kishnani, P. S. (2011). Atypical immunologic response in a patient with CRIM-negative Pompe disease. Mol Genet Metab, 104(4), 583–586. https://doi.org/10.1016/j.ymgme.2011.08.003Full Text Link to Item
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Zhang, H., Young, S. P., Auray-Blais, C., Orchard, P. J., Tolar, J., & Millington, D. S. (2011). Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry. Clin Chem, 57(7), 1005–1012. https://doi.org/10.1373/clinchem.2010.161141Full Text Link to Item
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El-Gharbawy, A. H., Boney, A., Young, S. P., & Kishnani, P. S. (2011). Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. Mol Genet Metab, 102(2), 214–215. https://doi.org/10.1016/j.ymgme.2010.11.001Full Text Link to Item
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Auray-Blais, C., Bhérer, P., Gagnon, R., Young, S. P., Zhang, H. H., An, Y., … Millington, D. S. (2011). Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab, 102(1), 49–56. https://doi.org/10.1016/j.ymgme.2010.09.003Full Text Link to Item
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Il’yasova, D., Kennedy, K., Spasojevic, I., Wang, F., Tolun, A. A., Base, K., … Dewhirst, M. W. (2011). Individual responses to chemotherapy-induced oxidative stress. Breast Cancer Res Treat, 125(2), 583–589. https://doi.org/10.1007/s10549-010-1158-7Full Text Link to Item
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Auray-Blais, C., Ntwari, A., Clarke, J. T. R., Warnock, D. G., Oliveira, J. P., Young, S. P., … Gagnon, R. (2010). How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta, 411(23–24), 1906–1914. https://doi.org/10.1016/j.cca.2010.07.038Full Text Link to Item
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Tolun, A. A., Zhang, H., Il’yasova, D., Sztáray, J., Young, S. P., & Millington, D. S. (2010). Allantoin in human urine quantified by ultra-performance liquid chromatography-tandem mass spectrometry. Anal Biochem, 402(2), 191–193. https://doi.org/10.1016/j.ab.2010.03.033Full Text Link to Item
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Il’yasova, D., Spasojevic, I., Wang, F., Tolun, A. A., Base, K., Young, S. P., … Millington, D. S. (2010). Urinary biomarkers of oxidative status in a clinical model of oxidative assault. Cancer Epidemiol Biomarkers Prev, 19(6), 1506–1510. https://doi.org/10.1158/1055-9965.EPI-10-0211Full Text Link to Item
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Zhang, H., Il’yasova, D., Sztaray, J., Young, S. P., Wang, F., & Millington, D. S. (2010). Quantification of the oxidative damage biomarker 2,3-dinor-8-isoprostaglandin-F(2alpha) in human urine using liquid chromatography-tandem mass spectrometry. Anal Biochem, 399(2), 302–304. https://doi.org/10.1016/j.ab.2009.12.024Full Text Link to Item
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Sun, B., Kulis, M. D., Young, S. P., Hobeika, A. C., Li, S., Bird, A., … Koeberl, D. D. (2010). Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease. Mol Ther, 18(2), 353–360. https://doi.org/10.1038/mt.2009.195Full Text Link to Item
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Kishnani, P. S., Goldenberg, P. C., DeArmey, S. L., Heller, J., Benjamin, D., Young, S., … Chen, Y.-T. (2010). Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab, 99(1), 26–33. https://doi.org/10.1016/j.ymgme.2009.08.003Full Text Link to Item
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Sun, B., Zhang, H., Bird, A., Li, S., Young, S. P., & Koeberl, D. D. (2009). Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression. J Gene Med, 11(10), 913–920. https://doi.org/10.1002/jgm.1372Full Text Link to Item
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Goldstein, J. L., Young, S. P., Changela, M., Dickerson, G. H., Zhang, H., Dai, J., … Bali, D. (2009). G.P.8.01 Diagnosis of Pompe disease using a rapid dried blood spot assayin patients with muscle weakness. Neuromuscular Disorders, 19(8–9), 591–591. https://doi.org/10.1016/j.nmd.2009.06.151Full Text
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Young, S. P., Goldstein, J. L., Winchester, E., Sanders, D., Stevens, R. D., Koeberl, D. D., & Millington, D. S. (2009). SULFITE OXIDASE AND MOLYBDENUM COFACTOR DEFICIENCIES: CLINICAL EXPERIENCE OF A DIAGNOSTIC LABORATORY AND LITERATURE REVIEW. Molecular Genetics and Metabolism, 98(1–2), 139–139.Link to Item
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Auray-Blais, C., Millington, D. S., Barr, C., Young, S. P., Mills, K., & Clarke, J. T. R. (2009). Gb(3)/creatinine biomarkers for Fabry disease: issues to consider. Mol Genet Metab, 97(3), 237. https://doi.org/10.1016/j.ymgme.2009.04.006Full Text Link to Item
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Goldstein, J. L., Young, S. P., Changela, M., Dickerson, G. H., Zhang, H., Dai, J., … Bali, D. S. (2009). Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve, 40(1), 32–36. https://doi.org/10.1002/mus.21376Full Text Link to Item
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Young, S. P., Zhang, H., Corzo, D., Thurberg, B. L., Bali, D., Kishnani, P. S., & Millington, D. S. (2009). Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker. Genet Med, 11(7), 536–541. https://doi.org/10.1097/GIM.0b013e3181a87867Full Text Link to Item
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Auray-Blais, C., Millington, D. S., Young, S. P., Clarke, J. T. R., & Schiffmann, R. (2009). Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis, 32(2), 303–308. https://doi.org/10.1007/s10545-009-1055-6Full Text Link to Item
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Zhang, H., Stevens, R. D., Young, S. P., Surwit, R., Georgiades, A., Boston, R., & Millington, D. S. (2009). A convenient LC-MS method for assessment of glucose kinetics in vivo with D-[13C6]glucose as a tracer. Clin Chem, 55(3), 527–532. https://doi.org/10.1373/clinchem.2008.113654Full Text Link to Item
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Auray-Blais, C., Millington, D. S., Young, S. P., Clarke, J. T. R., & Raphael, S. (2009). 7. An efficient high-risk screening protocol for Fabry disease. Molecular Genetics and Metabolism, 96(2), S13–S13. https://doi.org/10.1016/j.ymgme.2008.11.008Full Text
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Case, L. E., Koeberl, D. D., Young, S. P., Bali, D., DeArmey, S. M., Mackey, J., & Kishnani, P. S. (2008). Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study. Mol Genet Metab, 95(4), 233–235. https://doi.org/10.1016/j.ymgme.2008.09.001Full Text Link to Item
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Sun, B., Young, S. P., Li, P., Di, C., Brown, T., Salva, M. Z., … Koeberl, D. D. (2008). Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy. Mol Ther, 16(8), 1366–1371. https://doi.org/10.1038/mt.2008.133Full Text Link to Item
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Sun, B., Bird, A., Young, S. P., Kishnani, P. S., Chen, Y.-T., & Koeberl, D. D. (2007). Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. Am J Hum Genet, 81(5), 1042–1049. https://doi.org/10.1086/522236Full Text Link to Item
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Young, S., Struys, E., & Wood, T. (2007). Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes. Curr Protoc Hum Genet, Chapter 17, Unit-17.3. https://doi.org/10.1002/0471142905.hg1703s54Full Text Link to Item
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Sun, B., Zhang, H., Benjamin, D. K., Brown, T., Bird, A., Young, S. P., … Koeberl, D. D. (2006). Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II. Mol Ther, 14(6), 822–830. https://doi.org/10.1016/j.ymthe.2006.08.001Full Text Link to Item
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Pedersen, C. B., Bischoff, C., Christensen, E., Simonsen, H., Lund, A. M., Young, S. P., … Andresen, B. S. (2006). Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res, 60(3), 315–320. https://doi.org/10.1203/01.pdr.0000233085.72522.04Full Text Link to Item
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Zhang, H., Kallwass, H., Young, S. P., Carr, C., Dai, J., Kishnani, P. S., … Bali, D. (2006). Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet Med, 8(5), 302–306. https://doi.org/10.1097/01.gim.0000217781.66786.9bFull Text Link to Item
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Franco, L. M., Sun, B., Yang, X., Bird, A., Zhang, H., Schneider, A., … Koeberl, D. D. (2005). Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II. Mol Ther, 12(5), 876–884. https://doi.org/10.1016/j.ymthe.2005.04.024Full Text Link to Item
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An, Y., Young, S. P., Kishnani, P. S., Millington, D. S., Amalfitano, A., Corz, D., & Chen, Y.-T. (2005). Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab, 85(4), 247–254. https://doi.org/10.1016/j.ymgme.2005.03.010Full Text Link to Item
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Sun, B., Zhang, H., Franco, L. M., Young, S. P., Schneider, A., Bird, A., … Koeberl, D. D. (2005). Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II. Mol Ther, 11(1), 57–65. https://doi.org/10.1016/j.ymthe.2004.10.004Full Text Link to Item
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Young, S. P., Matern, D., Gregersen, N., Stevens, R. D., Bali, D., Liu, H.-M., … Millington, D. S. (2003). A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta, 337(1–2), 103–113. https://doi.org/10.1016/j.cccn.2003.07.006Full Text Link to Item
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Koeberl, D. D., Young, S. P., Gregersen, N. S., Vockley, J., Smith, W. E., Benjamin, D. K., … Millington, D. S. (2003). Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res, 54(2), 219–223. https://doi.org/10.1203/01.PDR.0000074972.36356.89Full Text Link to Item
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Young, S. P., Stevens, R. D., An, Y., Chen, Y.-T., & Millington, D. S. (2003). Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry. Anal Biochem, 316(2), 175–180. https://doi.org/10.1016/s0003-2697(03)00056-3Full Text Link to Item
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Young, S. P., An, Y., Van Hove, J., Stevens, R. D., Chen, Y. T., & Millington, D. S. (2002). Isomeric oligosaccharide analysis using hydrophilic interaction LC-ESI-MS/MS. Proceedings 50th Asms Conference on Mass Spectrometry and Allied Topics, 413–414.
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Young, S. P., Johnson, A. W., & Muller, D. P. (2001). Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease. Clin Sci (Lond), 101(6), 697–705.Link to Item
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An, Y., Young, S. P., Hillman, S. L., Van Hove, J. L., Chen, Y. T., & Millington, D. S. (2000). Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease. Anal Biochem, 287(1), 136–143. https://doi.org/10.1006/abio.2000.4838Full Text Link to Item
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Book Sections
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Chien, Y. H., Goldstein, J. L., Hwu, W. L., Smith, P. B., Lee, N. C., Chiang, S. C., … Young, S. P. (2015). Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening. In JIMD Reports (Vol. 19, pp. 67–73). https://doi.org/10.1007/8904_2014_366Full Text
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Prasun, P., Young, S., Salomons, G., Werneke, A., Jiang, Y.-H., Struys, E., … McDonald, M. (2015). Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. (Vol. 19, pp. 111–115). https://doi.org/10.1007/8904_2014_378Full Text Link to Item
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Koeberl, D. D., Young, S., Millington, D., & Klintworth, G. K. (2007). Disorders of amino acid metabolism. In Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition (pp. 953–982).
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Conference Papers
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Gibson, R. A., Lim, J.-A., Choi, S. J., Flores, L., Clinton, L., Bali, D., … Kishnani, P. S. (2021). Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model. In Mol Genet Metab (Vol. 133, pp. 269–276). United States. https://doi.org/10.1016/j.ymgme.2021.05.008Full Text Link to Item
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Zhang, H., Dickson, P. I., Chen, A. H., Weetall, M., Le, S. Q., Millington, D. S., & Young, S. P. (2016). Quantification of dermatan sulfate and heparan sulfate in cerebrospinal fluid using liquid chromatography-tandem mass spectrometry for therapeutic monitoring of patients with mucopolysaccharidoses. In Molecular Genetics and Metabolism (Vol. 117, pp. S123–S123). Elsevier BV. https://doi.org/10.1016/j.ymgme.2015.12.494Full Text
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Mori, M., Goldstein, J. L., Young, S. P., Millington, D. S., & Koeberl, D. D. (2015). A family with X-linked creatine transporter deficiency diagnosed by whole exome sequencing. In Molecular Genetics and Metabolism (Vol. 114, pp. 344–345). Salt Lake City, UT: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Young, S. P., Goldstein, J. L., Sheets, K. B., Chistensen, K. M., Kronn, D., Shinawi, M., … Kishnani, P. S. (2015). Urinary glucose tetrasaccharide concentrations in patients with infantile and late-onset Pompe disease identified by newborn screening. In Molecular Genetics and Metabolism (Vol. 114, pp. 321–322). Salt Lake City, UT: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Koeberl, D., Austin, S., Case, L., Smith, E. C., Buckley, A., Young, S. P., … Kishnani, P. S. (2014). Pilot study of adjunctive albuterol in late-onset Pompe disease reveals safety and efficacy from upregulated Mannose-6-phosphate receptor expression. In Molecular Genetics and Metabolism (Vol. 111, pp. S62–S62). Elsevier BV. https://doi.org/10.1016/j.ymgme.2013.12.137Full Text
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Koeberl, D. D., Li, S., Farah, B., Bird, A., Yen, P. M., & Young, S. P. (2013). Adjunctive beta 2-Agonist Therapy Enhances Trafficking of Acid alpha-Glucosidase to Lysosomes in the Skeletal Muscle of Mice with Pompe Disease. In Molecular Therapy (Vol. 21, pp. S236–S236). Salt Lake City, UT: NATURE PUBLISHING GROUP.Link to Item
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Weisfeld-Adams, J. D., Bottiglieri, T., Young, S. P., & Diaz, G. A. (2012). PLASMA METABOLITE PROFILES IN ELEVEN CHILDREN DIAGNOSED WITH COMBINED METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, COBALAMIN C TYPE, ON NEWBORN SCREENING AND TREATED SINCE BIRTH. In Journal of Inherited Metabolic Disease (Vol. 35, pp. S51–S51). SPRINGER.Link to Item
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Young, S. P., Zhang, H., Canfield, M., Vaisnins-Carroll, A., Auray-Blais, C., McDonald, M., & Millington, D. S. (2012). Assessment of urinary globotriaosylsphingosine (lyso-Gb(3)), globotriaosylceramide (gb(3)) by LC-MS/MS in patients with fabry disease. In Molecular Genetics and Metabolism (Vol. 105, pp. 364–365). Charlotte, NC: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Zhang, H., Wood, T., Fu, H., Auray-Blais, C., Young, S. P., Koeberl, D., & Millington, D. S. (2012). Quantification of glycosaminoglycans in human urine and mouse tissue by UPLC-MS/MS. In Molecular Genetics and Metabolism (Vol. 105, pp. 365–366). Charlotte, NC: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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El-Gharbawy, A. H., Smith, E. C., Bottiglieri, T., Hyland, K., Young, S. P., & Koeberl, D. (2011). Why 5-methyltetrahydrofolate may be preferred to folinic acid in severe MTHFR deficiency complicated by cerebral folate deficiency. Results of an "n-1-clinical trial". In Molecular Genetics and Metabolism (Vol. 102, pp. 278–279). Pacific Groove, CA: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Tolun, A. A., Hwu, P.-L., Chien, Y.-H., Vaisnins-Carroll, A., Bali, D., Millington, D., … Young, S. P. (2011). Monitoring urinary glucose tetrasaccharide biomarker in patients with infantile and late-onset Pompe disease identified through newborn screening. In Molecular Genetics and Metabolism (Vol. 102, pp. 316–317). Pacific Groove, CA: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Young, S. P., El-Gharbawy, A. H., Goldstein, J., Vaisnins-Carroll, A. E., Koeberl, D. D., & Millington, D. (2011). Elevation of guanidinoacetate in the newborn blood spot of a patient with guanidinoacetate methyltransferase deficiency. In Molecular Genetics and Metabolism (Vol. 102, pp. 324–324). Pacific Groove, CA: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Auray-Blais, C., Lavoie, P., Gagnon, R., Clarke, J. T. R., An, Y., Young, S. P., … Millington, D. S. (2011). Efficient urine filter paper mass spectrometry methodology for glycosaminoglycan quantification. In Molecular Genetics and Metabolism (Vol. 102, pp. S5–S6). Elsevier BV. https://doi.org/10.1016/j.ymgme.2010.11.017Full Text
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Auray-Blais, C., Lavoie, P., Gagnon, R., Clarke, J. T. R., Maranda, B., An, Y., … Millington, D. S. (2011). GLYCOSAMINOGLYCAN QUANTIFICATION BY LC/MS-MS FOR MUCOPOLYSACCHARIDOSES. In Journal of Inherited Metabolic Disease (Vol. 34, pp. S217–S217). SPRINGER.Link to Item
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Auray-Blais, C., Bhérer, P., Gagnon, R., Clarke, J. T. R., Zhang, H., An, Y., … Millington, D. S. (2010). 7. A urinary glycosaminoglycan analysis by tandem mass spectrometry. In Molecular Genetics and Metabolism (Vol. 99, pp. S9–S9). Elsevier BV. https://doi.org/10.1016/j.ymgme.2009.10.024Full Text
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Auray-Blais, C., Gagnon, R., Warnock, D. G., Young, S. P., Millington, D. S., & Clarke, J. T. R. (2010). 8. How useful is urinary lyso-Gb3 as a biomarker for Fabry disease? In Molecular Genetics and Metabolism (Vol. 99, pp. S9–S9). Elsevier BV. https://doi.org/10.1016/j.ymgme.2009.10.025Full Text
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Auray-Blais, C., Gagnon, R., Clarke, J. T. R., Young, S. P., & Millington, D. S. (2010). METABOLOMICS, BIOMARKER DISCOVERY AND FABRY DISEASE: AN EFFICIENT PLATFORM IS NECESSARY!. In Clinical Therapeutics (Vol. 32, pp. S112–S112). Prague, CZECH REPUBLIC: ELSEVIER.Link to Item
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Goldstein, J. L., Young, S. P., Changela, M., Dickerson, G. H., Zhang, H., Dai, J., … Bali, D. S. (2009). LABORATORY EXPERIENCE OF USING DRIED BLOOD SPOT ASSAY TO DIAGNOSE POMPE DISEASE. In Muscle & Nerve (Vol. 40, pp. 708–709). San Diego, CA: JOHN WILEY & SONS INC.Link to Item
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Tolun, A. A., Boyd, K. F., Austin, S. L., Vertilus, S. M., Case, L. E., Wechsler, S. B., … Kishnani, P. S. (2009). UTILITY OF A URINARY TETRASACCHARIDE AS A BIOMARKER FOR GLYCOGEN STORAGE DISEASE TYPE III. In Molecular Genetics and Metabolism (Vol. 98, pp. 39–39). San Diego, CA: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Milligan, D., Young, S. P., Tolun, A., Sztaray, J., & Il’Yasova, D. (2009). Development of tandem mass spectrometry assays for biomarkers of oxidative stress in urine. In Abstracts of Papers of the American Chemical Society (Vol. 237, pp. 373–373). AMER CHEMICAL SOC.Link to Item
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Auray-Blais, C., Clarke, J. T. R., Young, S. P., & Millington, D. S. (2009). Biomarkers in fabry disease. In Clinical Therapeutics (Vol. 31, pp. S24–S25). Elsevier BV. https://doi.org/10.1016/s0149-2918(09)80012-xFull Text
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Pedersen, C. B., Stenbroen, V., Wanders, R. J. A., Ruiter, J. P. N., Wibrand, F., Young, S. P., … Gregersen, N. (2008). Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Homozygosity for the common c.625G > A variation may contribute to SCAD dysfunction in cultured patient fibroblasts. In Journal of Inherited Metabolic Disease (Vol. 31, pp. 37–37). SPRINGER.Link to Item
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Sztaray, J., Il’yasova, D., Young, S. P., & Millington, D. S. (2008). Quantification of 2,3-dinor-F-2-isoprostanes as a biornarker of oxidative stress in urine by UPLC-LC-ESI-MSIMS: A convenient method for highthroughput analysis. In Molecular Genetics and Metabolism (Vol. 93, pp. 266–266). Pacific Grove, CA: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Young, S. P., Zhang, H., Bali, D., Kishnani, P., & Millington, D. S. (2008). Long-term monitoring of patients with infantile-onset pompe disease using a urinary tetrasaccharide biomarker. In Molecular Genetics and Metabolism (Vol. 93, pp. 266–267). Pacific Grove, CA: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Koeberl, D. D., Sun, B., Bird, A., Young, S. P., Chen, Y.-T., & Kishnani, P. S. (2007). 70 Enhanced response to enzyme replacement therapy in Pompe disease following the induction of immune tolerance. In Molecular Genetics and Metabolism (Vol. 92, pp. 27–27). Elsevier BV. https://doi.org/10.1016/j.ymgme.2007.08.075Full Text
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Goldstein, J. L., Young, S. P., Kishnani, P. S., Changela, M., Dai, J., & Bali, D. (2007). Dried blood spot assay for Pompe disease: diagnostic experience of the duke biochemical genetics laboratory. In Molecular Genetics and Metabolism (Vol. 90, pp. 251–252). Nashville, TN: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Young, S. P., Corzo, D., Kishnani, P., Koeberl, D. D., Bali, D., Peterson, D., … Millington, D. (2005). Diagnostic value of urinary and plasma glucose tetrasaccharides in Pompe disease. In Neuromuscular Disorders (Vol. 15, pp. 711–711). Iguassu Falls, BRAZIL: PERGAMON-ELSEVIER SCIENCE LTD.Link to Item
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Young, S. P., Corzo, D., Kishnani, P., Koeberl, D. D., Bali, D., Peterson, D., … Millington, D. S. (2005). Diagnostic value of urinary and plasma glucose tetrasaccharides in infantile and late onset glycogen storage disease type II. In Molecular Genetics and Metabolism (Vol. 84, pp. 241–242). Pacific Grove, CA: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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Young, S. P., Wood, T. C., Almeida, L. S., Salomons, G. S., Jakobs, C., Stevens, R. D., … Millington, D. S. (2004). A comparison of mass spectrometry methods for the measurement of creatine and guanidinoacetate in plasma. In Molecular Genetics and Metabolism (Vol. 81, pp. 182–182). Orlando, FL: ACADEMIC PRESS INC ELSEVIER SCIENCE.Link to Item
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