Sarah Phyllis Young

Professor of Pediatrics

Pediatrics, Medical Genetics

sarah.young@duke.edu

https://orcid.org/0000-0002-7671-016X

Box 103856, Durham, NC 27710

801 Capitola Drive, Suite 6, Durham, NC 27713

More About This Person

At a Glance

Credentials
1. Education

Academic Experience
1. Current Duke Appointments & Affiliations
2. Previous Duke Appointments & Affiliations

Global Scholarship

Keywords

Research

Scholarly Works

Teaching & Mentoring
1. Teaching Summary
2. Advising & Mentoring Summary

Recognition

Professional Activities

Scholarly Works - Conferences

Phenotypic target organ and biomarker variation within a family with late onset Fabry disease

Conference Molecular Genetics and Metabolism · February 2021 Full text Cite

Quantification of dermatan sulfate and heparan sulfate in cerebrospinal fluid using liquid chromatography-tandem mass spectrometry for therapeutic monitoring of patients with mucopolysaccharidoses

Conference Molecular Genetics and Metabolism · February 2016 Full text Cite

Urinary glucose tetrasaccharide concentrations in patients with infantile and late-onset Pompe disease identified by newborn screening

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2015 Link to item Cite

A family with X-linked creatine transporter deficiency diagnosed by whole exome sequencing

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2015 Link to item Cite

Pilot study of adjunctive albuterol in late-onset Pompe disease reveals safety and efficacy from upregulated Mannose-6-phosphate receptor expression

Conference Molecular Genetics and Metabolism · February 2014 Full text Cite

Adjunctive beta 2-Agonist Therapy Enhances Trafficking of Acid alpha-Glucosidase to Lysosomes in the Skeletal Muscle of Mice with Pompe Disease

Conference MOLECULAR THERAPY · June 1, 2013 Link to item Cite

PLASMA METABOLITE PROFILES IN ELEVEN CHILDREN DIAGNOSED WITH COMBINED METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, COBALAMIN C TYPE, ON NEWBORN SCREENING AND TREATED SINCE BIRTH

Conference JOURNAL OF INHERITED METABOLIC DISEASE · September 1, 2012 Link to item Cite

Quantification of glycosaminoglycans in human urine and mouse tissue by UPLC-MS/MS

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Assessment of urinary globotriaosylsphingosine (lyso-Gb(3)), globotriaosylceramide (gb(3)) by LC-MS/MS in patients with fabry disease

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Monitoring urinary glucose tetrasaccharide biomarker in patients with infantile and late-onset Pompe disease identified through newborn screening

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2011 Link to item Cite

Elevation of guanidinoacetate in the newborn blood spot of a patient with guanidinoacetate methyltransferase deficiency

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2011 Link to item Cite

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"

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2011 Link to item Cite

Efficient urine filter paper mass spectrometry methodology for glycosaminoglycan quantification

Conference Molecular Genetics and Metabolism · February 2011 Full text Cite

GLYCOSAMINOGLYCAN QUANTIFICATION BY LC/MS-MS FOR MUCOPOLYSACCHARIDOSES

Conference JOURNAL OF INHERITED METABOLIC DISEASE · January 1, 2011 Link to item Cite

7. A urinary glycosaminoglycan analysis by tandem mass spectrometry

Conference Molecular Genetics and Metabolism · February 2010 Full text Cite

8. How useful is urinary lyso-Gb3 as a biomarker for Fabry disease?

Conference Molecular Genetics and Metabolism · February 2010 Full text Cite

METABOLOMICS, BIOMARKER DISCOVERY AND FABRY DISEASE: AN EFFICIENT PLATFORM IS NECESSARY!

Conference CLINICAL THERAPEUTICS · January 1, 2010 Link to item Cite

LABORATORY EXPERIENCE OF USING DRIED BLOOD SPOT ASSAY TO DIAGNOSE POMPE DISEASE

Conference MUSCLE & NERVE · October 1, 2009 Link to item Cite

UTILITY OF A URINARY TETRASACCHARIDE AS A BIOMARKER FOR GLYCOGEN STORAGE DISEASE TYPE III

Conference MOLECULAR GENETICS AND METABOLISM · September 1, 2009 Link to item Cite

Development of tandem mass spectrometry assays for biomarkers of oxidative stress in urine

Conference ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY · March 22, 2009 Link to item Cite

Biomarkers in fabry disease

Conference Clinical Therapeutics · January 2009 Full text Cite

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Homozygosity for the common c.625G > A variation may contribute to SCAD dysfunction in cultured patient fibroblasts

Conference JOURNAL OF INHERITED METABOLIC DISEASE · August 1, 2008 Link to item Cite

Long-term monitoring of patients with infantile-onset pompe disease using a urinary tetrasaccharide biomarker.

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2008 Link to item Cite

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.

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2008 Link to item Cite

70 Enhanced response to enzyme replacement therapy in Pompe disease following the induction of immune tolerance

Conference Molecular Genetics and Metabolism · December 2007 Full text Cite

Dried blood spot assay for Pompe disease: diagnostic experience of the duke biochemical genetics laboratory.

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2007 Link to item Cite

Diagnostic value of urinary and plasma glucose tetrasaccharides in Pompe disease

Conference NEUROMUSCULAR DISORDERS · October 1, 2005 Link to item Cite

Diagnostic value of urinary and plasma glucose tetrasaccharides in infantile and late onset glycogen storage disease type II.

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2005 Link to item Cite

A comparison of mass spectrometry methods for the measurement of creatine and guanidinoacetate in plasma.

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2004 Link to item Cite