Shanti Balasubramaniam Selected Research

Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase)

1/2019	Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
1/2017	Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

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Shanti Balasubramaniam Research Topics

Disease

4	Mitochondrial Diseases (Mitochondrial Disease) 10/2022 - 01/2017
3	Brain Diseases (Brain Disorder) 07/2020 - 12/2010
3	Seizures (Absence Seizure) 07/2020 - 12/2010
2	Hypoglycemia (Reactive Hypoglycemia) 01/2020 - 01/2011
2	Nonketotic Hyperglycinemia 06/2019 - 09/2016
2	Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase) 01/2019 - 01/2017
2	Failure to Thrive 06/2015 - 12/2010
1	Mitochondrial encephalopathy 10/2022
1	Muscular Diseases (Myopathy) 01/2022
1	Barth Syndrome 07/2021
1	Cardiomyopathies (Cardiomyopathy) 07/2021
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 07/2021
1	Maple Syrup Urine Disease 05/2021
1	Bone Resorption 01/2021
1	Cutis Laxa 11/2020
1	Pyridoxine-dependent epilepsy 07/2020
1	Intellectual Disability (Idiocy) 07/2020
1	Epilepsy (Aura) 07/2020
1	Hyperinsulinism (Hyperinsulinemia) 01/2020
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2020
1	Drug Resistant Epilepsy 06/2019
1	3 Early Infantile Epileptic Encephalopathy 06/2019
1	Cardiovascular Diseases (Cardiovascular Disease) 01/2019
1	Holocarboxylase Synthetase Deficiency 01/2019
1	Malnutrition (Nutritional Deficiencies) 01/2019
1	Absent corpus callosum cataract immunodeficiency 01/2018
1	Sialorrhea 12/2017
1	Optic Atrophy 12/2016
1	Dystonic Disorders (Writer's Cramp) 12/2016
1	Ketosis 01/2016
1	Leigh Disease (Leigh's Disease) 11/2015
1	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 05/2015
1	Mucopolysaccharidosis I (Hurler Syndrome) 01/2015
1	Neoplasms (Cancer) 09/2014
1	Molybdenum cofactor deficiency 09/2014

Drug/Important Bio-Agent (IBA)

7	EnzymesIBA 11/2020 - 12/2010
3	Proteins (Proteins, Gene)FDA Link 01/2021 - 12/2010
2	Leucine (L-Leucine)FDA Link 05/2021 - 01/2011
2	Pyridoxine (Pyridoxin)FDA LinkGeneric 07/2020 - 12/2010
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 06/2019 - 09/2016
2	Adenosine KinaseIBA 09/2014 - 10/2011
2	purineIBA 09/2014 - 08/2014
2	S-Adenosylmethionine (Ademetionine)IBA 09/2014 - 08/2014
2	Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA 09/2014 - 08/2014
1	Cardiolipins (Cardiolipin)IBA 10/2022
1	cardiolipin synthetaseIBA 10/2022
1	ProteomeIBA 10/2022
1	Biomarkers (Surrogate Marker)IBA 01/2022
1	fibroblast growth factor 21IBA 01/2022
1	Growth Differentiation Factor 15IBA 01/2022
1	Growth Hormone (Somatotropin)IBA 07/2021
1	Isoleucine (L-Isoleucine)FDA Link 05/2021
1	Oxidoreductases (Dehydrogenase)IBA 05/2021
1	Valine (L-Valine)FDA Link 05/2021
1	RNA (Ribonucleic Acid)IBA 01/2021
1	DNA (Deoxyribonucleic Acid)IBA 01/2021
1	1-Phosphatidylinositol 4-Kinase (1 Phosphatidylinositol 4 Kinase)IBA 11/2020
1	pipecolic acidIBA 07/2020
1	Leucovorin (Folinic Acid)FDA Link 07/2020
1	Lysine (L-Lysine)FDA Link 07/2020
1	Anticonvulsants (Antiepileptic Drugs)IBA 07/2020
1	VitaminsIBA 07/2020
1	Diazoxide (Hyperstat)FDA Link 01/2020
1	Congenital disorder of glycosylation type 1AIBA 01/2020
1	Hypoglycemic Agents (Hypoglycemics)IBA 01/2020
1	4,6-dinitro-o-cresol (DNOC)IBA 01/2019
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2019
1	Mitochondrial DNA (mtDNA)IBA 01/2019
1	Flavin-Adenine Dinucleotide (FAD)IBA 01/2019
1	BiotinidaseIBA 01/2019
1	Autophagy-Related Protein 5IBA 01/2018
1	propionylcarnitineIBA 01/2017
1	ManganeseIBA 01/2017
1	Fatty Acids (Saturated Fatty Acids)IBA 12/2016
1	Glycine Dehydrogenase (Decarboxylating)IBA 09/2016
1	glycine cleavage systemIBA 09/2016
1	KetonesIBA 01/2016
1	Transfer RNA (tRNA)IBA 11/2015
1	Retinaldehyde (Retinal)IBA 06/2015
1	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 05/2015
1	GlycosaminoglycansIBA 05/2015
1	Dermatan SulfateIBA 05/2015
1	nulibryIBA 09/2014
1	Adenine phosphoribosyltransferase deficiencyIBA 09/2014
1	pyrimidineIBA 09/2014
1	pegademase bovine (pegADA)FDA Link 09/2014
1	Polyethylene Glycols (Polyethylene Glycol)FDA LinkGeneric 09/2014
1	Purine-Nucleoside PhosphorylaseIBA 09/2014
1	Adenylosuccinate LyaseIBA 09/2014
1	Adenosine DeaminaseIBA 09/2014
1	TransferasesIBA 09/2014
1	UridineIBA 09/2014
1	Adenine FDA LinkGeneric 09/2014
1	HypoxanthineIBA 09/2014
1	Ribose (D-Ribose)IBA 09/2014

Therapy/Procedure

6	Therapeutics 07/2021 - 09/2014
2	Ketogenic Diet 06/2019 - 09/2016
1	Hearing Aids (Hearing Aid) 12/2017
1	Cochlear Implants (Cochlear Implant) 12/2017
1	Bone Marrow Transplantation (Transplantation, Bone Marrow) 09/2014