Austin Larson Selected Research

Sorbitol (Yal)

12/2021

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.

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Austin Larson Research Topics

Disease

4	Neurodevelopmental Disorders 01/2022 - 01/2020
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 04/2024 - 01/2023
2	Intellectual Disability (Idiocy) 01/2022 - 01/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 10/2019
1	Rare Diseases (Rare Disease) 04/2024
1	Congenital Disorders of Glycosylation 04/2024
1	Cerebrotendinous Xanthomatosis 03/2024
1	Xanthomatosis (Xanthoma) 03/2024
1	Marshall-Smith syndrome 01/2024
1	Osteoporosis 11/2023
1	Autistic Disorder (Autism) 01/2022
1	Lenz Majewski hyperostotic dwarfism 01/2022
1	Liver Cirrhosis (Hepatic Cirrhosis) 01/2022
1	Peripheral Nervous System Diseases (PNS Diseases) 12/2021
1	Ataxia (Dyssynergia) 12/2021
1	Diabetic Neuropathies (Diabetic Neuropathy) 12/2021
1	Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction) 01/2020
1	Mucolipidoses (Sialidosis) 01/2020
1	Myotonic Dystrophy (Dystrophia Myotonica) 01/2020
1	Pyruvate Dehydrogenase Complex Deficiency Disease 01/2020
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2020
1	Hypothyroidism 03/2015
1	Adrenocorticotropic hormone deficiency 03/2015
1	Hypogonadism (Hypergonadotropic Hypogonadism) 03/2015
1	Diabetes Insipidus 03/2015
1	Seizures (Absence Seizure) 03/2013
1	Vascular Malformations 03/2013
1	Methemoglobinemia 03/2013
1	Androgen-Insensitivity Syndrome (Testicular Feminization) 11/2012
1	Disorders of Sex Development (Intersexuality) 11/2012
1	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 11/2012

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2024 - 01/2020
3	Biomarkers (Surrogate Marker)IBA 04/2024 - 01/2020
2	Congenital disorder of glycosylation type 1AIBA 04/2024 - 12/2021
2	epalrestatIBA 01/2023 - 12/2021
1	GlycopeptidesIBA 04/2024
1	carbohydrate-deficient transferrinIBA 04/2024
1	mannosyl(5)-N-acetyl(2)-glucoseIBA 04/2024
1	LipidsIBA 03/2024
1	Bile Acids and Salts (Bile Acids)IBA 03/2024
1	CholestanolsIBA 03/2024
1	CholesterolIBA 03/2024
1	Cholestanol (Coprostanol)IBA 03/2024
1	C-PeptideIBA 11/2023
1	polyolIBA 01/2023
1	phosphomannomutaseIBA 01/2023
1	NucleotidesIBA 01/2022
1	Glutamine (L-Glutamine)FDA Link 01/2022
1	Messenger RNA (mRNA)IBA 01/2022
1	CDPdiacylglycerol-Serine O-PhosphatidyltransferaseIBA 01/2022
1	Sorbitol (Yal)FDA Link 12/2021
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 01/2021
1	PhosphoproteinsIBA 01/2021
1	EnzymesIBA 01/2020
1	GlycosaminoglycansIBA 01/2020
1	Phosphotransferases (Kinase)IBA 01/2020
1	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 01/2020
1	Arginine (L-Arginine)FDA Link 01/2020
1	VitaminsIBA 01/2020
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 01/2020
1	Vitamin B 6IBA 01/2020
1	OligonucleotidesIBA 10/2019
1	ChromatinIBA 01/2019
1	Histones (Histone)IBA 01/2019
1	Growth Hormone (Somatotropin)IBA 03/2015
1	Prilocaine (Citanest)FDA LinkGeneric 03/2013
1	Lidocaine (Xylocaine)FDA LinkGeneric 03/2013
1	Prilocaine Drug Combination Lidocaine FDA LinkGeneric 03/2013
1	AndrogensIBA 11/2012

Therapy/Procedure

2	Therapeutics 01/2023 - 10/2019
1	Ketogenic Diet 01/2020