Faculty

Institution

Unit

Venue

Sarah Phyllis Young

Professor of Pediatrics

Duke University

Affiliations

School of Medicine

Clinical Science Departments

Department of Pediatrics

Division of Medical Genetics

Sarah Phyllis Young is currently serving as a Clinical Science S Professor of Pediatrics at Duke University.

Honors

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Experiences

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Education

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Sarah Phyllis Young

Duke University

Professor of Pediatrics

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genetics molecular genetics medicine health sciences pharmacology metabolism medical genetics genomics human genetics medicinal research pompe disease hematology biomarkers genetic disorders clinical research genome biology mammalian biology fabry disease clinical biochemistry neonatology analytical chemistry enzyme inhibition experimental medicine vascular biology liver physiology molecular metabolism biomarker discovery cerebrospinal fluid glycosylation clinical lipidology molecular diagnostics laboratory medicine gene vector genomic medicine biomarker (medicine) disease progression enzyme replacement therapy glucose tetrasaccharide tandem mass spectrometry clinical transplantation digestive diseases applied genetics clinical immunology therapeutic efficacy renal function mitochondrial function lipid science treatment effects liver disease technical standard infantile pompe disease redox biology clinical chemistry cancer treatment clinical therapeutics cancer prevention skeletal muscle muscle function prenatal diagnosis disease assessment renal pathophysiology murine pompe disease laboratory analysis glycocalyx breakdown human urine late-onset pompe disease developmental immunology adaptive immune system protein expression adrenal disease biological significance kidney failure pompe disease infants treatment outcomes replacement therapy long-term survivors diagnosis mass spectrometry pediatrics pregnancy hypertension

Notable Scholarly Works

Notable Federal Grants

Collaborators

Critical Sample Collection Delayed? Urine Organic Acid Analysis Can Still Save the Day!. Molecular Genetics and Metabolism (2024)

Ashlee StilesMonika WilliamsIskren MenkovicPamela ReitnauerEileen GilbertDwight KoeberlSarah Young

biostatisticshealth sciencescritical sample collectionmolecular geneticslaboratory medicinegenetics

Critical Sample Collection Delayed? Urine Organic Acid Analysis Can Still Save the Day! a New Case of Hmg-Coa Synthase Deficiency. Molecular Genetics and Metabolism Reports (2024)

Monika WilliamsIskren MenkovicPamela ReitnauerEileen GilbertDwight KoeberlSarah P. YoungAshlee R. Stiles

biostatisticsgenetic analysiscritical sample collectionhmg-coa synthase deficiencybioanalysismolecular geneticsmolecular biologymedical geneticsgenetics

Early Presentation of Morquio B Syndrome Identified via Skeletal Et Biochemical Findings. Molecular Genetics and Metabolism (2024)

Iskren MenkovicAshlee R. StilesSarah P. YoungAreeg El-Gharbawy

metabolismgenetic disordersmolecular geneticsbiochemical findingsgenetics

The Attenuated Hepatic Clearance of Propionate Increases Cardiac Oxidative Stress in Propionic Acidemia. Basic Research in Cardiology (2024)

You WangSuhong ZhuWentao HeHannah MarchukEva RichardLourdes R DesviatSarah P YoungDwight KoeberlTakhar KasumovXiaoxin ChenGuo-Fang Zhang

cardiovascular researchcardiologycirculatory physiologyliver physiologyphysiologylipid peroxidationreactive oxygen speciespropionate increasesattenuated hepatic clearanceoxidative stresspropionic acidemiaredox biologycardiovascular physiology

Whole Exome Sequencing Reveals a Dual Diagnosis of Bcap31-Related Syndrome and Glutaric Aciduria III. Molecular Genetics and Metabolism Reports (2024)

Erin HugginsDavid G JacksonSarah P YoungPriya S Kishnani

genetic disordersdual diagnosisglutaric aciduriagenomicswhole exome sequencingmolecular geneticsmolecular biologygenetics

An Exploratory Study of Plasma Ceramides in Comorbidities in Down Syndrome. American Journal of Medical Genetics Part A (2023)

Gordon WorleySeul Kee ByeonP. Brian SmithSarah J. HartSarah P. YoungAkhilesh PandeyPriya S. Kishnani

neurologyplasma ceramideshematologyexploratory studymedical geneticshealth sciencesgenetics

Intra-Articular Aav9 α-L-Iduronidase Gene Replacement in the Canine Model of Mucopolysaccharidosis Type I. Advances in Cell and Gene Therapy (2023)

Raymond Yu-Jeang WangShih-Hsin KanHaoyue ZhangJodi D. SmithAfshin AminianElizabeth SnellaJackie K. JensSarah P. YoungPatricia I. DicksonN. Matthew Ellinwood

biological engineeringgene therapygenetic engineeringregenerative medicinegene deliverycell therapybiological therapiescell manipulationmedicinal researchcellular therapycanine modelmammalian biologyprotein engineeringpharmacologyclinical transplantationpharmacotherapygene expressiongenetics

Intrauterine Enzyme Replacement Therapies for Lysosomal Storage Disorders: Current Developments and Promising Future Prospects. Prenatal Diagnosis (2023)

Akos HerzegBeltran BorgesBillie R. LianoglouJuan Gonzalez‐VelezEmma CanepaDane MunarSarah P. YoungDeeksha BaliMichel H. GelbPranesh ChakrabortyPriya S. KishnaniPaul HarmatzJennifer L. CohenTippi C. MacKenzie

pediatricsneonatologypromising future prospectsmaternal-fetal medicineprenatal diagnosishematologycurrent developmentsdevelopmental biologylysosomal storage disordersfetal medicinematernal healthhealth sciencesobstetrics and gynaecology

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease. Obstetrical & Gynecological Survey (2023)

Jennifer L. CohenPranesh ChakrabortyKaren Fung-Kee-FungMarisa E. SchwabDeeksha BaliSarah P. YoungMichael H. GelbHamid KhalediAlicia DiBattistaStacey SmallshawFelipe MorettiDerek WongCatherine LacroixDina El DemellawyKyle C. StricklandJane LougheedAnita Moon-GradyBillie R. LianoglouPaul HarmatzPriya S. KishnaniTippi C. MacKenzie

pediatricsneonatologyinfantile-onset pompegynecologyobstetricsveterinary medicinematernal healthobstetrics and gynaecology

Quantification of Glycosaminoglycans in Urine by Isotope‐Dilution Liquid Chromatography‐Electrospray Ionization Tandem Mass Spectrometry. Current Protocols (2023)

Haoyue ZhangSarah P. YoungDavid S. Millington

analytical microsystemsclinical biochemistrydrug analysisanalytical toxicologyisotope geochemistryglycosylationanalytical chemistrybiochemistrychromatographybioanalysisprotein mass spectrometrylaboratory protocolsbiochemical sciencesmass spectrometrycarbohydrate chemistryurologybiomolecular engineering

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Sarah Phyllis Young

Professor of Pediatrics

Duke University

Affiliations

School of Medicine

Clinical Science Departments

Department of Pediatrics

Division of Medical Genetics

Sarah Phyllis Young is currently serving as a Clinical Science S Professor of Pediatrics at Duke University.

Honors

Create free account to unlock more features

Experiences

Create free account to unlock more features

Education

Create free account to unlock more features

Sarah Phyllis Young

Duke University

Professor of Pediatrics

You can click a keyword to filter the displayed items

Notable Scholarly Works

Notable Federal Grants

Collaborators

Critical Sample Collection Delayed? Urine Organic Acid Analysis Can Still Save the Day!. Molecular Genetics and Metabolism (2024)

Ashlee StilesMonika WilliamsIskren MenkovicPamela ReitnauerEileen GilbertDwight KoeberlSarah Young

biostatisticshealth sciencescritical sample collectionmolecular geneticslaboratory medicinegenetics

Critical Sample Collection Delayed? Urine Organic Acid Analysis Can Still Save the Day! a New Case of Hmg-Coa Synthase Deficiency. Molecular Genetics and Metabolism Reports (2024)

Monika WilliamsIskren MenkovicPamela ReitnauerEileen GilbertDwight KoeberlSarah P. YoungAshlee R. Stiles

biostatisticsgenetic analysiscritical sample collectionhmg-coa synthase deficiencybioanalysismolecular geneticsmolecular biologymedical geneticsgenetics

Early Presentation of Morquio B Syndrome Identified via Skeletal Et Biochemical Findings. Molecular Genetics and Metabolism (2024)

Iskren MenkovicAshlee R. StilesSarah P. YoungAreeg El-Gharbawy

metabolismgenetic disordersmolecular geneticsbiochemical findingsgenetics

The Attenuated Hepatic Clearance of Propionate Increases Cardiac Oxidative Stress in Propionic Acidemia. Basic Research in Cardiology (2024)

You WangSuhong ZhuWentao HeHannah MarchukEva RichardLourdes R DesviatSarah P YoungDwight KoeberlTakhar KasumovXiaoxin ChenGuo-Fang Zhang

Whole Exome Sequencing Reveals a Dual Diagnosis of Bcap31-Related Syndrome and Glutaric Aciduria III. Molecular Genetics and Metabolism Reports (2024)

Erin HugginsDavid G JacksonSarah P YoungPriya S Kishnani

genetic disordersdual diagnosisglutaric aciduriagenomicswhole exome sequencingmolecular geneticsmolecular biologygenetics

An Exploratory Study of Plasma Ceramides in Comorbidities in Down Syndrome. American Journal of Medical Genetics Part A (2023)

Gordon WorleySeul Kee ByeonP. Brian SmithSarah J. HartSarah P. YoungAkhilesh PandeyPriya S. Kishnani

neurologyplasma ceramideshematologyexploratory studymedical geneticshealth sciencesgenetics

Intra-Articular Aav9 α-L-Iduronidase Gene Replacement in the Canine Model of Mucopolysaccharidosis Type I. Advances in Cell and Gene Therapy (2023)

Raymond Yu-Jeang WangShih-Hsin KanHaoyue ZhangJodi D. SmithAfshin AminianElizabeth SnellaJackie K. JensSarah P. YoungPatricia I. DicksonN. Matthew Ellinwood

Intrauterine Enzyme Replacement Therapies for Lysosomal Storage Disorders: Current Developments and Promising Future Prospects. Prenatal Diagnosis (2023)

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease. Obstetrical & Gynecological Survey (2023)

pediatricsneonatologyinfantile-onset pompegynecologyobstetricsveterinary medicinematernal healthobstetrics and gynaecology

Quantification of Glycosaminoglycans in Urine by Isotope‐Dilution Liquid Chromatography‐Electrospray Ionization Tandem Mass Spectrometry. Current Protocols (2023)

Haoyue ZhangSarah P. YoungDavid S. Millington

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5
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Vanderbilt University

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toxicological mechanism

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