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Majid Alfadhel Selected Research
Majid Alfadhel Research Topics
Disease
7
Microcephaly
11/2021 - 01/2015
6
Seizures (Absence Seizure)
01/2022 - 10/2011
6
Methylmalonic acidemia
10/2021 - 01/2016
6
Muscle Hypotonia (Hypotonia)
12/2020 - 10/2011
5
Basal Ganglia Diseases (Basal Ganglia Disease)
10/2022 - 06/2013
5
Brain Diseases (Brain Disorder)
01/2022 - 01/2014
5
Propionic Acidemia
10/2021 - 01/2018
5
Intellectual Disability (Idiocy)
12/2020 - 10/2011
5
Inborn Errors Metabolism (Inborn Errors of Metabolism)
09/2019 - 01/2015
4
Nonketotic Hyperglycinemia
01/2019 - 09/2014
3
Hyperammonemia
10/2021 - 12/2017
3
Polydactyly (Polydactylism)
01/2021 - 01/2019
3
Epilepsy (Aura)
12/2020 - 07/2012
3
Language Development Disorders (Semantic-Pragmatic Disorder)
04/2019 - 07/2012
3
VLCAD deficiency
01/2019 - 01/2018
3
Atrophy
12/2018 - 12/2017
3
biotin-responsive Basal ganglia disease
01/2018 - 06/2013
3
Quadriplegia (Spastic Quadriplegia)
01/2016 - 06/2013
2
Phenylketonurias (Phenylketonuria)
03/2024 - 01/2019
2
Congenital Disorders of Glycosylation
01/2023 - 01/2018
2
Liver Failure
01/2023 - 03/2014
2
Rare Diseases (Rare Disease)
01/2023 - 01/2021
2
Chronic Kidney Failure (Chronic Renal Failure)
01/2023 - 01/2012
2
Inborn Genetic Diseases (Disease, Hereditary)
01/2023 - 12/2019
2
Cardiomyopathies (Cardiomyopathy)
01/2022 - 10/2019
2
Ataxia (Dyssynergia)
01/2022 - 01/2017
2
Infections
01/2022 - 01/2018
2
Methylenetetrahydrofolate reductase deficiency
12/2020 - 01/2019
2
Cystinuria
01/2020 - 01/2017
2
Muscular Diseases (Myopathy)
10/2019 - 01/2017
2
Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
10/2019 - 12/2017
2
Hypoglycemia (Reactive Hypoglycemia)
01/2019 - 09/2014
2
Neurodegenerative Diseases (Neurodegenerative Disease)
12/2018 - 01/2017
2
Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
11/2018 - 01/2018
2
Failure to Thrive
01/2018 - 10/2011
2
Nervous System Diseases (Neurological Disorders)
01/2017 - 01/2017
1
Color Vision Defects (Color Blindness)
10/2023
1
Angelman Syndrome (Syndrome, Angelman)
01/2023
1
Neurodevelopmental Disorders
01/2023
1
Hypothyroidism
01/2023
1
Hypotrichosis And Recurrent Skin Vesicles
01/2022
1
Liver Cirrhosis (Hepatic Cirrhosis)
01/2022
1
Type V 3-Methylglutaconic Aciduria
01/2022
1
Glioma (Gliomas)
01/2022
1
Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2022
1
Chronic Renal Insufficiency
01/2022
1
Early Onset Severe Retinal Dystrophy
08/2021
1
Retinal Dystrophies
08/2021
1
Microvillus inclusion disease
08/2021
1
Ciliopathies
06/2021
1
Photophobia (Light Sensitivity)
01/2021
1
Congenital Abnormalities (Deformity)
01/2021
1
Cataract (Cataracts)
01/2021
Drug/Important Bio-Agent (IBA)
10
Thiamine (Aneurin)
FDA Link
10/2022 - 07/2012
9
Proteins (Proteins, Gene)
FDA Link
01/2022 - 12/2016
9
Enzymes
IBA
12/2020 - 01/2011
6
Biotin (Vitamin H)
FDA Link
10/2022 - 06/2013
4
Nonsense Codon (Nonsense Mutation)
IBA
01/2021 - 01/2018
3
Retinaldehyde (Retinal)
IBA
10/2023 - 06/2018
3
Serotonin (5 Hydroxytryptamine)
IBA
01/2023 - 01/2014
3
Dopamine (Intropin)
FDA Link
Generic
01/2023 - 01/2014
3
Fatty Acids (Saturated Fatty Acids)
IBA
01/2019 - 01/2018
3
Mitochondrial DNA (mtDNA)
IBA
01/2018 - 03/2014
3
Pyridoxine (Pyridoxin)
FDA Link
Generic
01/2014 - 01/2012
2
Norepinephrine (Noradrenaline)
FDA Link
Generic
01/2023 - 01/2014
2
Lipids
IBA
01/2023 - 12/2018
2
carglumic acid
FDA Link
10/2021 - 01/2019
2
Cystine (L-Cystine)
IBA
01/2020 - 01/2017
2
Nucleotides
IBA
04/2019 - 01/2017
2
Glycine (Aminoacetic Acid)
FDA Link
Generic
01/2019 - 11/2016
2
Methylmalonyl-CoA Mutase
IBA
01/2019 - 01/2016
2
Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)
IBA
01/2019 - 01/2018
2
Tuberculin (PPD)
IBA
01/2019 - 01/2019
2
Glycine Plasma Membrane Transport Proteins
IBA
01/2019 - 11/2016
2
Vitamin B 12 (Cyanocobalamin)
FDA Link
Generic
01/2018 - 10/2011
2
Aspartate-Ammonia Ligase (Asparagine Synthetase)
IBA
01/2016 - 01/2015
1
pegvaliase
IBA
03/2024
1
Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)
IBA
01/2023
1
Ligases (Synthetase)
IBA
01/2023
1
Aromatic-L-Amino-Acid Decarboxylases
IBA
01/2023
1
Ubiquitin
IBA
01/2023
1
Epinephrine (Adrenaline)
FDA Link
Generic
01/2023
1
dichloromaleic acid (DCMA)
IBA
01/2022
1
Glycoproteins (Glycoprotein)
IBA
01/2022
1
Desmocollins
IBA
01/2022
1
3-methylglutaric acid
IBA
01/2022
1
Metalloproteases (Metalloproteinases)
IBA
01/2022
1
3-methylglutaconic acid
IBA
01/2022
1
Leucine (L-Leucine)
FDA Link
01/2022
1
Messenger RNA (mRNA)
IBA
01/2022
1
Disintegrins
IBA
01/2022
1
acid labile subunit insulin-like growth factor binding protein
IBA
11/2021
1
Biomarkers (Surrogate Marker)
IBA
10/2021
1
Ammonia
IBA
10/2021
1
DNA (Deoxyribonucleic Acid)
IBA
01/2021
1
dichlorobis(azomycin)platinum II
IBA
01/2021
Therapy/Procedure
5
Therapeutics
01/2022 - 01/2014
1
Liver Transplantation
01/2023
1
Transplantation
01/2023
1
Length of Stay
10/2021