Sarah H Elsea Selected Research

Hyperargininemia

1/2022	Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
1/2019	Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
11/2017	Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
11/2015	Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

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Sarah H Elsea Research Topics

Disease

12	Smith-Magenis Syndrome 12/2021 - 11/2006
9	Intellectual Disability (Idiocy) 01/2021 - 11/2006
4	Hyperargininemia 01/2022 - 11/2015
4	Seizures (Absence Seizure) 11/2020 - 11/2015
4	Inborn Errors Metabolism (Inborn Errors of Metabolism) 09/2020 - 01/2016
4	Inborn Urea Cycle Disorders 01/2019 - 07/2014
3	Obesity 08/2022 - 10/2010
3	Gamma aminobutyric acid transaminase deficiency 01/2022 - 01/2019
3	Epilepsy (Aura) 01/2022 - 10/2011
3	Ornithine Carbamoyltransferase Deficiency Disease 01/2022 - 09/2016
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 01/2019
3	Citrullinemia 01/2022 - 07/2014
3	Neurodevelopmental Disorders 01/2021 - 12/2017
3	Autism Spectrum Disorder 01/2021 - 01/2015
3	Neoplasms (Cancer) 01/2020 - 11/2015
3	Hyperammonemia 12/2018 - 01/2014
2	Neutropenia 07/2022 - 11/2020
2	Propionic Acidemia 01/2022 - 01/2017
2	Phenylketonurias (Phenylketonuria) 01/2022 - 01/2017
2	Zellweger Syndrome (Zellweger's Syndrome) 01/2022 - 10/2018
2	Brain Diseases (Brain Disorder) 01/2022 - 01/2019
2	Aromatic amino acid decarboxylase deficiency 01/2022 - 10/2017
2	Hypoglycemia (Reactive Hypoglycemia) 01/2022 - 02/2016
2	Argininosuccinic Aciduria 01/2022 - 11/2017
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021 - 01/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 10/2010
2	Leigh Disease (Leigh's Disease) 10/2019 - 01/2019
2	Neurologic Manifestations (Neurological Manifestations) 01/2018 - 01/2017
2	VLCAD deficiency 02/2016 - 11/2015
2	Autistic Disorder (Autism) 10/2015 - 09/2015
2	Craniofacial Abnormalities 08/2014 - 07/2012
1	Overweight 08/2022
1	Glycogen Storage Disease (Glycogenosis) 07/2022
1	Arthralgia (Joint Pain) 07/2022
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 07/2022
1	Glycogen Storage Disease IB 07/2022
1	Infections 07/2022
1	Protein Deficiency 04/2022
1	Sideroblastic Anemia 01/2022
1	Methylmalonic acidemia 01/2022
1	Glutaric Acidemia I 01/2022
1	Fever (Fevers) 01/2022
1	Rhizomelic Chondrodysplasia Punctata 01/2022
1	Maple Syrup Urine Disease 01/2022
1	Rare Diseases (Rare Disease) 11/2021
1	succinic semialdehyde dehydrogenase deficiency 11/2021
1	Pre-Eclampsia (Preeclampsia) 11/2021
1	Ataxia (Dyssynergia) 11/2020
1	Progressive Bulbar Palsy (Fazio Londe Syndrome) 11/2020
1	Anemia 11/2020
1	Sensorineural Hearing Loss 11/2020
1	Dysarthria (Spastic Dysarthria) 11/2020
1	Peripheral Nervous System Diseases (PNS Diseases) 11/2020
1	Macrocytic Anemia 11/2020
1	Respiratory Insufficiency (Respiratory Failure) 11/2020
1	Transaldolase Deficiency 09/2020
1	Pancreatic Neoplasms (Pancreatic Cancer) 01/2020
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 01/2020

Drug/Important Bio-Agent (IBA)

11	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/2020 - 11/2006
6	EnzymesIBA 11/2021 - 01/2015
6	Biomarkers (Surrogate Marker)IBA 01/2019 - 05/2002
4	AcidsIBA 01/2020 - 01/2017
3	Pharmaceutical PreparationsIBA 01/2022 - 10/2017
3	MelatoninIBA 01/2020 - 01/2015
3	Fatty Acids (Saturated Fatty Acids)IBA 05/2019 - 11/2015
3	Proteins (Proteins, Gene)FDA Link 01/2019 - 07/2012
3	acylcarnitineIBA 01/2019 - 02/2016
3	Carnitine (L-Carnitine)FDA LinkGeneric 01/2016 - 09/2015
2	NAD (NADH)IBA 01/2022 - 01/2020
2	Arginine (L-Arginine)FDA Link 01/2019 - 11/2015
2	succinimideIBA 01/2019 - 01/2019
2	Amino Acids FDA Link 01/2019 - 10/2017
2	2-pyrrolidoneIBA 01/2019 - 01/2019
2	Urea (Carbamide)FDA LinkGeneric 11/2017 - 11/2015
2	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 02/2016 - 11/2015
2	OrnithineIBA 11/2015 - 07/2014
1	Anti-Anxiety Agents (Anxiolytics)IBA 08/2022
1	GlycogenIBA 07/2022
1	Glucose (Dextrose)FDA LinkGeneric 07/2022
1	SodiumIBA 07/2022
1	1,5-anhydroglucitolIBA 07/2022
1	Sodium-Glucose Transporter 2 InhibitorsIBA 07/2022
1	empagliflozinIBA 07/2022
1	Citric Acid (Citrate)FDA LinkGeneric 04/2022
1	CreatineIBA 01/2022
1	Adenylosuccinate lyase deficiencyIBA 01/2022
1	Glutamine (L-Glutamine)FDA Link 01/2022
1	Growth Hormone (Somatotropin)IBA 01/2022
1	Transfer RNA (tRNA)IBA 01/2022
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2022
1	tasimelteonIBA 12/2021
1	Aspirin (Acetylsalicylic Acid)FDA LinkGeneric 11/2021
1	Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA 11/2021
1	Biological ProductsIBA 01/2021
1	Riboflavin (Vitamin B2)FDA LinkGeneric 11/2020
1	TransketolaseIBA 09/2020
1	CeramidasesIBA 01/2020

Therapy/Procedure

1	Blood Transfusion (Blood Transfusions) 11/2020
1	Aftercare (After-Treatment) 11/2020
1	Immunotherapy 01/2020