Seema R Lalani Selected Research

Gamma aminobutyric acid transaminase deficiency

1/2019	2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
1/2019	Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.

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Seema R Lalani Research Topics

Disease

6	Intellectual Disability (Idiocy) 01/2022 - 12/2016
3	Seizures (Absence Seizure) 01/2022 - 10/2009
3	Microcephaly 01/2022 - 06/2011
2	Heart Arrest (Cardiac Arrest) 10/2022 - 11/2018
2	Neoplasms (Cancer) 01/2022 - 01/2021
2	Gamma aminobutyric acid transaminase deficiency 01/2019 - 01/2019
2	CHARGE Syndrome 01/2018 - 02/2006
2	Autism Spectrum Disorder 01/2017 - 01/2017
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2017 - 01/2017
2	Congenital Heart Defects (Congenital Heart Defect) 12/2016 - 01/2016
2	Dwarfism 01/2016 - 12/2015
1	Cardiomyopathies (Cardiomyopathy) 10/2022
1	Ventricular Tachycardia 10/2022
1	Cardiac Arrhythmias (Arrythmia) 10/2022
1	Chromosomal Instability (Chromosome Stability) 01/2022
1	Bone Marrow Failure Disorders 01/2022
1	Stroke (Strokes) 10/2020
1	Neurodevelopmental Disorders 01/2020
1	Tics (Tic) 12/2019
1	Hartnup Disease 12/2019
1	Leukoencephalopathies 04/2019
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 04/2019
1	Vision Disorders (Hemeralopia) 04/2019
1	Nonsyndromic Deafness 04/2019
1	Autistic Disorder (Autism) 01/2019
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2019
1	Cognitive Dysfunction 01/2018
1	Coloboma (Colobomas) 01/2018
1	Lung Diseases (Lung Disease) 01/2017
1	Respiratory Insufficiency (Respiratory Failure) 01/2017
1	Pulmonary Arterial Hypertension 01/2017
1	Mobius Syndrome (Moebius Syndrome) 01/2017
1	Megalencephaly 12/2016
1	Facies 01/2016
1	Meier-Gorlin syndrome 12/2015
1	Tetralogy of Fallot (Fallot Tetralogy) 09/2015
1	Williams Syndrome (Williams-Beuren Syndrome) 02/2015
1	Supravalvular Aortic Stenosis (Aortic Supravalvular Stenosis) 02/2015
1	Aortic Coarctation 11/2013
1	Hypoplastic Left Heart Syndrome 11/2013
1	Epilepsy (Aura) 01/2013
1	Marfan Syndrome (Marfan's Syndrome) 06/2011
1	Thoracic Aortic Aneurysm 06/2011
1	Loeys-Dietz Syndrome 06/2011
1	Cohen syndrome 10/2010
1	Rett Syndrome (Rett's Disorder) 10/2009
1	Infantile Spasms (West Syndrome) 10/2009
1	Drug Resistant Epilepsy 10/2009
1	Inborn Genetic Diseases (Disease, Hereditary) 02/2005
1	Mitochondrial Diseases (Mitochondrial Disease) 02/2005
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 02/2005
1	Muscular Diseases (Myopathy) 02/2005

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2013
3	Carrier Proteins (Binding Protein)IBA 01/2018 - 02/2006
2	Transaminases (Aminotransferases)IBA 01/2019 - 11/2015
2	2-pyrrolidoneIBA 01/2019 - 01/2019
2	Biomarkers (Surrogate Marker)IBA 01/2019 - 01/2019
2	AcidsIBA 01/2019 - 02/2005
2	ChromatinIBA 01/2019 - 01/2018
2	succinimideIBA 01/2019 - 01/2019
2	acylcarnitineIBA 01/2019 - 02/2005
2	DNA HelicasesIBA 01/2018 - 02/2006
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2017 - 01/2017
1	Transcription Factors (Transcription Factor)IBA 01/2022
1	SteroidsIBA 01/2022
1	Deubiquitinating EnzymesIBA 01/2021
1	Q-Type Calcium Channels (Q-Type Calcium Channel)IBA 10/2020
1	Messenger RNA (mRNA)IBA 01/2020
1	Niacin (Nicotinic Acid)FDA LinkGeneric 12/2019
1	Lysine-tRNA LigaseIBA 04/2019
1	Amino Acids FDA Link 01/2019
1	Edetic Acid (EDTA)FDA Link 01/2019
1	gamma-Aminobutyric Acid (GABA)IBA 01/2019
1	Histones (Histone)IBA 01/2019
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/2019
1	Nucleosomes (Nucleosome)IBA 01/2018
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2018
1	TubulinIBA 01/2017
1	Protein Phosphatase 1IBA 12/2016
1	Biological ProductsIBA 01/2016
1	Cysteine (L-Cysteine)FDA Link 01/2016
1	GATA4 Transcription FactorIBA 09/2015
1	ElastinIBA 02/2015
1	12- (4'- azido- 2'- nitrophenoxy)dodecanoyl- coenzyme AIBA 11/2013
1	Transforming Growth Factor-beta Type II ReceptorIBA 06/2011
1	OligonucleotidesIBA 06/2011
1	Cyclin-Dependent Kinases (cdk Proteins)IBA 10/2009
1	Pharmaceutical PreparationsIBA 10/2009
1	Lactic Acid (Lactate)FDA LinkGeneric 02/2005
1	Creatine Kinase (Creatine Phosphokinase)IBA 02/2005
1	coenzyme Q10 (CoQ10)IBA 02/2005

Therapy/Procedure

2	Tracheostomy 11/2018 - 01/2017
1	Communication Aids for Disabled (TDD) 10/2022
1	Surgical Instruments (Clip) 01/2019
1	Extracorporeal Membrane Oxygenation 11/2018
1	Enteral Nutrition (Feeding, Tube) 11/2018
1	Mechanical Ventilators (Ventilator) 01/2017
1	Transplantation 01/2017
1	Lung Transplantation 01/2017
1	Ligation 10/2010