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Molecular Genetics and Metabolism Reports|March 4, 2016
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosisMari Mori, Jennifer Goldstein, Sarah P Young, et al.
Analytical Biochemistry|April 6, 2010
Allantoin in human urine quantified by ultra-performance liquid chromatography-tandem mass spectrometryAdviye A Tolun, Haoyue Zhang, Dora Il'yasova, et al.
American Journal of Human Genetics|October 10, 2007
Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune toleranceBaodong Sun, Andrew Bird, Sarah P Young, et al.
Clinical Chemistry|May 18, 2011
Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometryHaoyue Zhang, Sarah P Young, Christiane Auray-Blais, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI modelsPascale Tuyaa-Boustugue, Ingrid Jantzen, Haoyue Zhang, et al.
Molecular Therapy. Methods & Clinical Development|June 2, 2015
Corrigendum to "Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease"Gensheng Wang, Sarah P Young, Deeksha Bali, et al.
Molecular Genetics and Metabolism Reports|March 12, 2024
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiencyMonika Williams, Iskren Menkovic, Pamela Reitnauer, et al.
Molecular Therapy. Methods & Clinical Development|July 12, 2019
Erratum: Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe diseaseGensheng Wang, Sarah P Young, Deeksha Bali, et al.
Molecular Therapy. Methods & Clinical Development|May 28, 2015
Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe diseaseGensheng Wang, Sarah P Young, Deeksha Bali, et al.
JIMD Reports|March 17, 2021
Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type IIISarah P Young, Aleena Khan, Ela Stefanescu, et al.
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