Abeer Al Tuwaijri Selected Research

Type V 3-Methylglutaconic Aciduria

1/2022

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.

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Abeer Al Tuwaijri Research Topics

Disease

3	Asthma (Bronchial Asthma) 01/2017 - 07/2012
1	Neurodevelopmental Disorders 01/2023
1	Congenital Disorders of Glycosylation 01/2023
1	Breast Neoplasms (Breast Cancer) 01/2023
1	Cardiomyopathies (Cardiomyopathy) 01/2022
1	Type V 3-Methylglutaconic Aciduria 01/2022
1	Hypotrichosis And Recurrent Skin Vesicles 01/2022
1	Ataxia (Dyssynergia) 01/2022
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2022
1	Seizures (Absence Seizure) 01/2022
1	Infections 01/2022
1	Ciliopathies 06/2021
1	Congenital Abnormalities (Deformity) 01/2021
1	Aneuploidy (Aneuploid) 01/2021
1	Photophobia (Light Sensitivity) 01/2021
1	Scoliosis 01/2021
1	Infarction (Infarctions) 12/2020
1	Obesity 04/2019
1	Intellectual Disability (Idiocy) 04/2019
1	Language Development Disorders (Semantic-Pragmatic Disorder) 04/2019
1	Adenocarcinoma 01/2017

Drug/Important Bio-Agent (IBA)

2	NucleotidesIBA 01/2023 - 04/2019
2	Proteins (Proteins, Gene)FDA Link 06/2021 - 01/2017
2	Carrier Proteins (Binding Protein)IBA 01/2017 - 07/2012
1	LipidsIBA 01/2023
1	EnzymesIBA 01/2023
1	3-methylglutaconic acidIBA 01/2022
1	3-methylglutaric acidIBA 01/2022
1	dichloromaleic acid (DCMA)IBA 01/2022
1	DesmocollinsIBA 01/2022
1	dichlorobis(azomycin)platinum IIIBA 01/2021
1	MorpholinosIBA 01/2021
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 12/2020
1	Transcription Factors (Transcription Factor)IBA 04/2019
1	Amino Acids FDA Link 04/2019
1	MethyltransferasesIBA 01/2017
1	SphingolipidsIBA 01/2017
1	DNA (Deoxyribonucleic Acid)IBA 01/2017
1	GasderminsIBA 01/2017
1	Decitabine FDA Link 01/2017
1	sodium bisulfite FDA Link 04/2016
1	Nucleosomes (Nucleosome)IBA 07/2012