Inderneel Sahai Selected Research

2-methylacetoacetic acid

1/2018

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

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Inderneel Sahai Research Topics

Disease

2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 11/2020 - 08/2011
2	Neurodevelopmental Disorders 01/2019 - 11/2018
1	Language Development Disorders (Semantic-Pragmatic Disorder) 09/2022
1	Sensorineural Hearing Loss 09/2022
1	Hyperargininemia 06/2021
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2021
1	Malnutrition (Nutritional Deficiencies) 11/2020
1	Infections 11/2020
1	Propionic Acidemia 07/2020
1	Hypotension (Low Blood Pressure) 07/2020
1	Cardiomyopathies (Cardiomyopathy) 07/2020
1	Glutaric Acidemia I 01/2018
1	Acidosis 01/2018
1	Ketosis 01/2018
1	Stroke (Strokes) 01/2018
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2018
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2018
1	Ornithine Carbamoyltransferase Deficiency Disease 04/2016
1	Fibrolamellar hepatocellular carcinoma 04/2016
1	Brain Diseases (Brain Disorder) 04/2016
1	Autosomal Dominant Cutis Laxa 09/2015
1	Congenital Hypothyroidism (Cretinism) 02/2014
1	Tyrosinemias (Tyrosinemia) 05/2013
1	Medium chain acyl CoA dehydrogenase deficiency 09/2010
1	Megaloblastic Anemia 12/2009
1	Globoid Cell Leukodystrophy (Krabbe Disease) 10/2005
1	Demyelinating Diseases (Demyelinating Disease) 10/2005

Drug/Important Bio-Agent (IBA)

2	Urea (Carbamide)FDA LinkGeneric 06/2021 - 11/2020
1	Transaminases (Aminotransferases)IBA 09/2022
1	OrnithineIBA 06/2021
1	Arginine (L-Arginine)FDA Link 06/2021
1	T-Cell Antigen Receptors (T-Cell Receptor)IBA 01/2021
1	AmmoniaIBA 11/2020
1	UreaseIBA 11/2020
1	Proteins (Proteins, Gene)FDA Link 11/2020
1	DiureticsIBA 07/2020
1	Histones (Histone)IBA 01/2019
1	Lysine (L-Lysine)FDA Link 01/2019
1	Adenosine Triphosphatases (ATPase)IBA 11/2018
1	Isoleucine (L-Isoleucine)FDA Link 01/2018
1	2-methyl-3-hydroxybutyric acidIBA 01/2018
1	2-methylacetoacetic acidIBA 01/2018
1	Beta ketothiolase deficiencyIBA 01/2018
1	Acetyl-CoA C-Acyltransferase (beta Ketothiolase)IBA 01/2018
1	AcidsIBA 01/2018
1	tiglylglycineIBA 01/2018
1	KetonesIBA 01/2018
1	Gemcitabine FDA Link 04/2016
1	Oxaliplatin (Eloxatin)FDA LinkGeneric 04/2016
1	Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA 09/2015
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 02/2014
1	IsotopesIBA 05/2013
1	Biomarkers (Surrogate Marker)IBA 08/2011
1	Fatty Acids (Saturated Fatty Acids)IBA 09/2010
1	Thiamine (Aneurin)FDA Link 12/2009
1	GalactosylceramidaseIBA 10/2005
1	EnzymesIBA 10/2005
1	GalactolipidsIBA 10/2005

Therapy/Procedure

1	Liver Transplantation 07/2020