Search Results - "Young, Sarah P"

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 by Zhang, Haoyue, Wood, Tim, Young, Sarah P., Millington, David S.

“…Mucopolysaccharidoses (MPS) are complex storage disorders that result in the accumulation of glycosaminoglycans (GAGs) in urine, blood, brain and other…”
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A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females by Stiles, Ashlee R., Zhang, Haoyue, Dai, Jian, McCaw, Patricia, Beasley, James, Rehder, Catherine, Koeberl, Dwight D., McDonald, Marie, Bali, Deeksha S., Young, Sarah P.

“…Successful diagnosis of Fabry disease is often delayed or missed in patients, especially females, due to clinical heterogeneity and a lack of disease…”
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Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia by Waskowicz, Lauren R, Zhou, Jin, Landau, Dustin J, Brooks, Elizabeth D, Lim, Andrea, Yavarow, Zollie A, Kudo, Tsubasa, Zhang, Haoyue, Wu, Yajun, Grant, Stuart, Young, Sarah P, Huat, Bay Boon, Yen, Paul M, Koeberl, Dwight D

“…Abstract Glucose-6-phosphatase α (G6Pase) deficiency, also known as von Gierke's Disease or Glycogen storage disease type Ia (GSD Ia), is characterized by…”
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Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III by Huggins, Erin, Jackson, David G., Young, Sarah P., Kishnani, Priya S.

“…Biochemical testing is a common first-tier approach in the setting of genetic evaluation of patients with unexplained developmental delay. However, results can…”
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Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency by Williams, Monika, Menkovic, Iskren, Reitnauer, Pamela, Gilbert, Eileen, Koeberl, Dwight, Young, Sarah P., Stiles, Ashlee R.

“…Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis caused by…”
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Reduction of lysosome abundance and gag accumulation after odiparcil treatment in MPS I and MPS VI models by Tuyaa-Boustugue, Pascale, Jantzen, Ingrid, Zhang, Haoyue, Young, Sarah P., Broqua, Pierre, Tallandier, Mireille, Entchev, Eugeni

“…Deficiencies of lysosomal enzymes responsible for the degradation of glycosaminoglycans (GAG) cause pathologies commonly known as the mucopolysaccharidoses…”
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Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI by Auray-Blais, Christiane, Bhérer, Patrick, Gagnon, René, Young, Sarah P., Zhang, Haoyue H., An, Yan, Clarke, Joe T.R., Millington, David S.

“…Mucopolysaccharidoses (MPSs) are complex storage disorders caused by specific lysosomal enzyme deficiencies, resulting in the accumulation of…”
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An improved method for glycosaminoglycan analysis by LC–MS/MS of urine samples collected on filter paper by Auray-Blais, Christiane, Lavoie, Pamela, Zhang, Haoyue, Gagnon, René, Clarke, Joe T.R., Maranda, Bruno, Young, Sarah P., An, Yan, Millington, David S.

“…Mucopolysaccharidoses are complex lysosomal storage disorders caused by any of eleven different enzyme deficiencies resulting in the accumulation of…”
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Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance by Sun, Baodong, Bird, Andrew, Young, Sarah P., Kishnani, Priya S., Chen, Y.-T., Koeberl, Dwight D.

“…Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal enzyme acid α-glucosidase (GAA) (also called “acid maltase”),…”
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Multidimensional predictors of antidepressant responses: Integrating mitochondrial, genetic, metabolic and environmental factors with clinical outcomes by Nasca, Carla, Barnhill, Olivia, DeAngelis, Paolo, Watson, Kathleen, Lin, Jue, Beasley, James, Young, Sarah P., Myoraku, Alison, Dobbin, Josh, Bigio, Benedetta, McEwen, Bruce, Rasgon, Natalie

“…Major depressive disorder (MDD) is a primary psychiatric illness worldwide; there is a dearth of new mechanistic models for the development of better…”
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Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease by Sun, Baodong, Kulis, Michael D, Young, Sarah P, Hobeika, Amy C, Li, Songtao, Bird, Andrew, Zhang, Haoyue, Li, Yifan, Clay, Timothy M, Burks, Wesley, Kishnani, Priya S, Koeberl, Dwight D

“…Infantile Pompe disease progresses to a lethal cardiomyopathy in absence of effective treatment. Enzyme-replacement therapy (ERT) with recombinant human acid…”
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Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques by Young, Sarah P., Piraud, Monique, Goldstein, Jennifer L., Zhang, Haoyue, Rehder, Catherine, Laforet, Pascal, Kishnani, Priya S., Millington, David S., Bashir, Mustafa R., Bali, Deeksha S.

“…Defining disease severity in patients with Pompe disease is important for prognosis and monitoring the response to therapies. Current approaches include…”
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A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III by Hijazi, Ghada, Paschall, Anna, Young, Sarah P., Smith, Brian, Case, Laura E., Boggs, Tracy, Amarasekara, Sathya, Austin, Stephanie L., Pendyal, Surekha, El-Gharbawy, Areeg, Deak, Kristen L., Muir, Andrew J., Kishnani, Priya S.

“…A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement…”
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Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease by Han, Sang-oh, Li, Songtao, McCall, Angela, Arnson, Benjamin, Everitt, Jeffrey I., Zhang, Haoyue, Young, Sarah P., ElMallah, Mai K., Koeberl, Dwight D.

“…Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA). It is expected that gene therapy to replace GAA with adeno-associated virus…”
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Urinary Biomarkers of Oxidative Status in a Clinical Model of Oxidative Assault by LL'YASOVA, Dora, SPASOJEVIC, Ivan, MILLINGTON, David S, WANG, Frances, TOLUN, Adviye A, BASE, Karel, YOUNG, Sarah P, KELLY MARCOM, P, MARKS, Jeffrey, MIXON, Gabriel, DIGIULIO, Richard

“…We used doxorubicin-based chemotherapy as a clinical model of oxidative assault in humans. The study recruited newly diagnosed breast cancer patients (n = 23)…”
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Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency by El-Gharbawy, Areeg H., Goldstein, Jennifer L., Millington, David S., Vaisnins, Amie E., Schlune, Andrea, Barshop, Bruce A., Schulze, Andreas, Koeberl, Dwight D., Young, Sarah P.

“…Guanidinoacetate methyltransferase (GAMT) deficiency is a good candidate disorder for newborn screening because early treatment appears to improve outcomes. We…”
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Correction of Multiple Striated Muscles in Murine Pompe Disease Through Adeno-associated Virus–mediated Gene Therapy by Sun, Baodong, Young, Sarah P, Li, Ping, Di, Chunhui, Brown, Talmage, Salva, Maja Z, Li, Songtao, Bird, Andrew, Yan, Zhen, Auten, Richard, Hauschka, Stephen D, Koeberl, Dwight D

“…Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the deficiency of acid α-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily…”
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Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III by Young, Sarah P., Khan, Aleena, Stefanescu, Ela, Seifts, Andrea M., Hijazi, Ghada, Austin, Stephanie, Kishnani, Priya S.

“…Aim The urinary glucose tetrasaccharide, Glcα1‐6Glcα1‐4Glcα1‐4Glc (Glc4), is a glycogen limit dextrin that is elevated in patients with glycogen storage…”
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Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia by Kang, Hye-Ri, Waskowicz, Lauren, Seifts, Andrea M., Landau, Dustin J., Young, Sarah P., Koeberl, Dwight D.

“…Glycogen storage disease type Ia (GSD Ia) is a rare inherited disease caused by mutations in the glucose-6-phosphatase (G6Pase) catalytic subunit gene (G6PC)…”
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Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease by Wang, Gensheng, Young, Sarah P, Bali, Deeksha, Hutt, Julie, Li, Songtao, Benson, Janet, Koeberl, Dwight D

“…A preclinical safety study was conducted to evaluate the short- and long-term toxicity of a recombinant adeno-associated virus serotype 8 (AAV2/8) vector that…”
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