Soumeya Bekri Selected Research

Malonic aciduria

11/2021

Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.

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Soumeya Bekri Research Topics

Disease

10	Fabry Disease (Fabry's Disease) 02/2022 - 01/2005
7	Inflammation (Inflammations) 01/2022 - 08/2006
5	Obesity 01/2021 - 08/2006
3	Neoplasms (Cancer) 10/2021 - 07/2006
3	Inborn Genetic Diseases (Disease, Hereditary) 08/2021 - 01/2015
3	Anemia 07/2021 - 09/2006
3	Cystinuria 01/2021 - 01/2015
2	Cardiomyopathies (Cardiomyopathy) 02/2022 - 11/2021
2	Mucopolysaccharidoses 01/2022 - 05/2016
2	Failure to Thrive 12/2021 - 11/2021
2	Weight Loss (Weight Reduction) 07/2021 - 01/2021
2	Iron Deficiencies 07/2021 - 12/2010
2	Movement Disorders (Movement Disorder) 02/2021 - 09/2015
2	Non-alcoholic Fatty Liver Disease 01/2021 - 08/2006
2	Fetal Alcohol Spectrum Disorders 11/2019 - 01/2017
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2019 - 05/2016
2	Metabolic Diseases (Metabolic Disease) 01/2019 - 07/2007
2	Rhabdomyolysis 09/2018 - 11/2012
2	Brain Diseases (Brain Disorder) 12/2016 - 09/2011
2	Microcephaly 09/2015 - 09/2011
2	Epilepsy (Aura) 09/2015 - 11/2013
2	Dystonia (Limb Dystonia) 09/2015 - 11/2013
2	Ataxia (Dyssynergia) 09/2015 - 11/2013
2	Intellectual Disability (Idiocy) 11/2013 - 09/2011
1	Hepatocellular Carcinoma (Hepatoma) 01/2022
1	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2022
1	Liver Diseases (Liver Disease) 01/2022
1	Wolman Disease (Wolman's Disease) 12/2021
1	Gastroenteritis 12/2021
1	Seizures (Absence Seizure) 11/2021
1	Hypoglycemia (Reactive Hypoglycemia) 11/2021
1	Acidosis 11/2021
1	Hemolysis 11/2021
1	Erythropoietic Porphyria (Congenital Erythropoietic Porphyria) 11/2021
1	Glioblastoma (Glioblastoma Multiforme) 10/2021
1	Tremor (Tremors) 08/2021
1	Alacrima 02/2021
1	NGLY1 deficiency 02/2021
1	Hydrops Fetalis (Fetal Edema) 02/2021
1	Muscular Diseases (Myopathy) 01/2021
1	Hypertension (High Blood Pressure) 01/2021
1	Fatty Liver 01/2021
1	Renal Insufficiency (Renal Failure) 01/2021
1	alpha-Mannosidosis 01/2021
1	Disease Progression 01/2021
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2021
1	Mental Disorders (Mental Disorder) 11/2020
1	Hemorrhage 07/2020
1	Sepsis (Septicemia) 01/2020
1	Pain (Aches) 09/2018
1	Infections 09/2018
1	Neoplasm Metastasis (Metastasis) 01/2018
1	Nephrolithiasis 07/2017
1	Intracranial Hemorrhages (Intracranial Hemorrhage) 02/2017

Drug/Important Bio-Agent (IBA)

7	EnzymesIBA 02/2022 - 05/2010
7	Biomarkers (Surrogate Marker)IBA 01/2021 - 08/2006
5	GalactosidasesIBA 01/2022 - 10/2006
3	alpha-Galactosidase (Beano)IBA 02/2022 - 01/2005
3	GlycosphingolipidsIBA 02/2022 - 05/2020
3	Biological ProductsIBA 10/2021 - 05/2020
3	HepcidinsIBA 07/2021 - 09/2006
3	IronIBA 07/2021 - 06/2008
3	Cystine (L-Cystine)IBA 01/2021 - 01/2015
3	C-Reactive ProteinIBA 06/2008 - 08/2006
2	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2015
2	CytokinesIBA 01/2022 - 01/2022
2	Glutamic Acid (Glutamate)FDA Link 02/2017 - 03/2012
2	Transferrin (beta 2 Transferrin)IBA 06/2008 - 09/2006
1	sphingosine 1-phosphate (sphingosine-1-phosphate)IBA 02/2022
1	EndotoxinsIBA 01/2022
1	Plasminogen Activator Inhibitor 1IBA 01/2022
1	Sebelipase alfaIBA 12/2021
1	Sterol Esterase (Hormone-Sensitive Lipase)IBA 12/2021
1	Malonic aciduriaIBA 11/2021
1	Heme (Haem)IBA 11/2021
1	Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA 11/2021
1	LipidsIBA 10/2021
1	3-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyIBA 08/2021
1	3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA)IBA 08/2021
1	Transferrin Receptors (Transferrin Receptor)IBA 07/2021
1	protoporphyrin IXIBA 07/2021
1	metal transporting protein 1 (ferroportin)IBA 07/2021
1	OligosaccharidesIBA 02/2021
1	AntibodiesIBA 02/2021
1	alpha-Mannosidase (LAMAN)IBA 01/2021
1	DystrophinIBA 01/2021
1	Ketone BodiesIBA 01/2020
1	Sodium Lactate FDA LinkGeneric 01/2020
1	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/2019
1	Carnitine palmitoyl transferase 2 deficiencyIBA 09/2018
1	creatine transporterIBA 01/2018
1	Amino Acids FDA Link 07/2017
1	Peptide Hydrolases (Proteases)FDA Link 02/2017

Therapy/Procedure

5	Enzyme Replacement Therapy 12/2021 - 01/2005
3	Bariatric Surgery 07/2021 - 06/2008
1	Parenteral Nutrition 12/2021
1	Gastrectomy 07/2021
1	Conservative Treatment 01/2021
1	Ligation 01/2020
1	Punctures 01/2020