Shamima Rahman Selected Research

Galactitol

1/2020

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

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Shamima Rahman Research Topics

Disease

32	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 05/2009
7	Epilepsy (Aura) 12/2023 - 05/2012
6	Seizures (Absence Seizure) 12/2023 - 05/2009
6	Leigh Disease (Leigh's Disease) 01/2021 - 11/2006
5	Muscular Diseases (Myopathy) 01/2020 - 05/2012
4	Deafness (Deaf Mutism) 01/2020 - 01/2012
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 01/2018
4	Ataxia (Dyssynergia) 01/2019 - 05/2012
4	Hearing Loss (Hearing Impairment) 02/2018 - 01/2012
4	Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease) 01/2016 - 02/2009
3	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 12/2023 - 05/2009
3	Rhabdomyolysis 01/2021 - 11/2012
3	Lactic Acidosis 01/2021 - 05/2009
3	Pyruvate Dehydrogenase Complex Deficiency Disease 01/2020 - 12/2013
3	Metabolic Diseases (Metabolic Disease) 01/2019 - 01/2016
3	Mitochondrial encephalopathy 07/2015 - 12/2010
3	Cytochrome-c Oxidase Deficiency 12/2013 - 06/2013
2	Rare Diseases (Rare Disease) 12/2023 - 11/2018
2	Neoplasms (Cancer) 09/2023 - 04/2002
2	Movement Disorders (Movement Disorder) 01/2023 - 01/2019
2	Muscle Hypotonia (Hypotonia) 10/2021 - 02/2014
2	Basal Ganglia Diseases (Basal Ganglia Disease) 01/2020 - 10/2013
2	Kearns-Sayre Syndrome 01/2020 - 09/2011
2	Cataract (Cataracts) 01/2020 - 03/2015
2	3-Methylglutaconic Aciduria 01/2020 - 03/2015
2	Brain Diseases (Brain Disorder) 01/2020 - 01/2020
2	Status Epilepticus (Complex Partial Status Epilepticus) 12/2019 - 10/2018
2	Auditory neuropathy 02/2018 - 01/2018
2	Cerebellar Ataxia (Dysmetria) 02/2018 - 01/2013
2	CAPOS syndrome 02/2018 - 01/2018
2	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2016 - 10/2006
2	Brown-Vialetto-Van Laere syndrome 03/2014 - 01/2014
2	Ophthalmoplegia (External Ophthalmoplegia) 10/2013 - 01/2013
2	Coenzyme Q10 Deficiency 01/2013 - 05/2009
2	MELAS Syndrome (Syndrome, MELAS) 05/2012 - 02/2010
1	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 04/2024
1	Parkinson Disease (Parkinson's Disease) 12/2023
1	Glucose Intolerance 12/2023
1	Cystic Kidney Diseases (Cystic Kidney Disease) 12/2023
1	Short Qt Syndrome 12/2023
1	Long QT Syndrome 12/2023
1	Tremor (Tremors) 12/2023
1	Neurodevelopmental Disorders 01/2023
1	Fatigue 01/2022
1	Stroke (Strokes) 01/2022
1	Hypoxia (Hypoxemia) 10/2021
1	Hypoventilation 10/2021
1	Hypopigmentation (Hypomelanosis) 10/2021
1	Kernicterus 01/2020
1	Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease) 01/2020
1	Paraplegia (Spastic Paraplegia) 01/2020
1	Galactosemias (Galactosemia) 01/2020
1	Globoid Cell Leukodystrophy (Krabbe Disease) 01/2020

Drug/Important Bio-Agent (IBA)

19	Mitochondrial DNA (mtDNA)IBA 01/2020 - 10/2006
7	Proteins (Proteins, Gene)FDA Link 12/2023 - 04/2002
5	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2020 - 06/2013
5	Transfer RNA (tRNA)IBA 10/2019 - 05/2012
5	UbiquinoneIBA 07/2015 - 05/2009
4	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2018
4	EnzymesIBA 01/2020 - 04/2002
4	Riboflavin (Vitamin B2)FDA LinkGeneric 12/2019 - 01/2014
4	AminoglycosidesIBA 02/2015 - 10/2007
3	LipidsIBA 01/2020 - 03/2015
3	coenzyme Q10 (CoQ10)IBA 12/2019 - 01/2013
3	Anticonvulsants (Antiepileptic Drugs)IBA 12/2019 - 05/2012
3	Flavin-Adenine Dinucleotide (FAD)IBA 01/2019 - 12/2010
3	DNA Polymerase gammaIBA 01/2018 - 10/2006
3	VitaminsIBA 08/2015 - 05/2012
3	Oxidoreductases (Dehydrogenase)IBA 07/2015 - 12/2010
2	Vigabatrin FDA Link 04/2024 - 01/2020
2	Valproic Acid (Depakote)FDA LinkGeneric 04/2024 - 06/2009
2	Immunoglobulins (Immunoglobulin)IBA 09/2023 - 10/2018
2	Thiamine (Aneurin)FDA Link 01/2020 - 10/2013
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2020 - 02/2014
2	Folic Acid (Vitamin M)FDA LinkGeneric 01/2019 - 11/2015
2	Serine (L-Serine)FDA Link 01/2019 - 04/2015
2	Adenosine Triphosphatases (ATPase)IBA 02/2018 - 01/2018
2	Glucose (Dextrose)FDA LinkGeneric 01/2016 - 04/2012
2	Molecular Chaperones (Chaperone, Molecular)IBA 07/2015 - 12/2010
2	AntioxidantsIBA 07/2015 - 04/2012
2	Mitochondrial Proteins (Mitochondrial Protein)IBA 03/2015 - 04/2002
2	Anti-Bacterial Agents (Antibiotics)IBA 02/2015 - 03/2014
1	Transaminases (Aminotransferases)IBA 04/2024
1	Aminobutyrates (Aminobutyric Acid)IBA 04/2024
1	Topiramate (Topamax)FDA LinkGeneric 04/2024
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 12/2023
1	Ketoglutarate Dehydrogenase Complex (Oxoglutarate Dehydrogenase)IBA 01/2023
1	Doxycycline (Periostat)FDA LinkGeneric 01/2022
1	Prolyl Hydroxylases (Prolyl Hydroxylase)IBA 10/2021
1	Retinaldehyde (Retinal)IBA 10/2021
1	Activating Transcription Factor 4IBA 10/2021
1	RNA Polymerase II (RNA Polymerase B)IBA 10/2021
1	Linezolid (Zyvox)FDA Link 01/2021
1	FMN cyclaseIBA 01/2020
1	FructoseIBA 01/2020
1	Adenosine (Adenocard)FDA LinkGeneric 01/2020
1	GalactitolIBA 01/2020

Therapy/Procedure

10	Therapeutics 01/2021 - 02/2010
3	Ketogenic Diet 01/2016 - 05/2012
2	Hearing Aids (Hearing Aid) 02/2018 - 12/2017