Majid Alfadhel Selected Research

Glycine (Aminoacetic Acid)

1/2019	Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review.
11/2016	Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.

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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	EnzymesIBA 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 LinkGeneric 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 LinkGeneric 01/2014 - 01/2012
2	Norepinephrine (Noradrenaline)FDA LinkGeneric 01/2023 - 01/2014
2	LipidsIBA 01/2023 - 12/2018
2	carglumic acid FDA Link 10/2021 - 01/2019
2	Cystine (L-Cystine)IBA 01/2020 - 01/2017
2	NucleotidesIBA 04/2019 - 01/2017
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2019 - 11/2016
2	Methylmalonyl-CoA MutaseIBA 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 ProteinsIBA 01/2019 - 11/2016
2	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2018 - 10/2011
2	Aspartate-Ammonia Ligase (Asparagine Synthetase)IBA 01/2016 - 01/2015
1	pegvaliaseIBA 03/2024
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2023
1	Ligases (Synthetase)IBA 01/2023
1	Aromatic-L-Amino-Acid DecarboxylasesIBA 01/2023
1	UbiquitinIBA 01/2023
1	Epinephrine (Adrenaline)FDA LinkGeneric 01/2023
1	dichloromaleic acid (DCMA)IBA 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	DesmocollinsIBA 01/2022
1	3-methylglutaric acidIBA 01/2022
1	Metalloproteases (Metalloproteinases)IBA 01/2022
1	3-methylglutaconic acidIBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	Messenger RNA (mRNA)IBA 01/2022
1	DisintegrinsIBA 01/2022
1	acid labile subunit insulin-like growth factor binding proteinIBA 11/2021
1	Biomarkers (Surrogate Marker)IBA 10/2021
1	AmmoniaIBA 10/2021
1	DNA (Deoxyribonucleic Acid)IBA 01/2021
1	dichlorobis(azomycin)platinum IIIBA 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