Ghada M H Abdel-Salam Selected Research

Aspartate-Ammonia Ligase (Asparagine Synthetase)

1/2021

Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency.

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Ghada M H Abdel-Salam Research Topics

Disease

6	Microcephaly 01/2021 - 07/2009
3	type 1 Microcephalic osteodysplastic primordial dwarfism 08/2013 - 11/2011
2	Hydrocephalus (Hydrocephaly) 08/2023 - 01/2011
2	Intracranial Hemorrhages (Intracranial Hemorrhage) 01/2021 - 08/2013
1	Neurodevelopmental Disorders 01/2024
1	Brain Diseases (Brain Disorder) 11/2023
1	Aneuploidy (Aneuploid) 11/2023
1	Genomic Instability 01/2022
1	Rare Diseases (Rare Disease) 01/2022
1	Wieacker syndrome 01/2022
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2022
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2022
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022
1	Molybdenum cofactor deficiency 01/2021
1	Brain Edema (Cerebral Edema) 01/2021
1	Triploidy 01/2020
1	Type II Microcephalic Osteodysplastic Primordial Dwarfism 01/2020
1	Coloboma (Colobomas) 01/2020
1	Seizures (Absence Seizure) 01/2019
1	Micrognathism 11/2018
1	Facial Paralysis (Facial Palsy) 10/2018
1	Failure to Thrive 10/2016
1	Fibrosis (Cirrhosis) 10/2015
1	Dwarfism 09/2015
1	Oculocutaneous Albinism (Albinism, Yellow Mutant) 08/2013
1	Chilblains (Chilblain) 08/2013
1	Scoliosis 11/2012
1	Bone Fractures (Bone Fracture) 11/2012
1	Metabolic Bone Diseases (Osteopenia) 11/2012
1	Partial agenesis of corpus callosum 11/2011
1	Synostosis 01/2011
1	Infections 07/2009
1	Megaepiphyseal dwarfism 06/2006

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 11/2023 - 01/2020
2	Retinaldehyde (Retinal)IBA 01/2020 - 08/2013
2	EnzymesIBA 01/2019 - 11/2012
2	Nonsense Codon (Nonsense Mutation)IBA 11/2018 - 06/2006
2	Small Nuclear RNA (snRNA)IBA 06/2012 - 11/2011
1	MethyltransferasesIBA 01/2024
1	RNA (Ribonucleic Acid)IBA 01/2024
1	Messenger RNA (mRNA)IBA 11/2023
1	Blood Glucose (Blood Sugar)IBA 11/2023
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 08/2023
1	thymidine 5'-triphosphate (thymidine triphosphate)IBA 01/2022
1	DNA (Deoxyribonucleic Acid)IBA 01/2022
1	muskIBA 01/2022
1	Aspartate-Ammonia Ligase (Asparagine Synthetase)IBA 01/2021
1	T-18 (T 18)IBA 01/2020
1	TransferasesIBA 01/2019
1	Isoflurophate (DFP)FDA Link 10/2018
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 10/2016
1	Phosphotransferases (Kinase)IBA 10/2016
1	serum P-component (CIt)IBA 10/2016
1	CollagenIBA 10/2015
1	5,6-dihydroxy-2-dimethylaminotetralin (M 7)IBA 09/2015
1	Transfer RNA (tRNA)IBA 09/2015
1	dimemorfan (AT 17)IBA 08/2012
1	imidazole mustard (BIC)IBA 07/2009
1	Collagen Type XIIBA 06/2006

Therapy/Procedure

1	Ventriculostomy 01/2011
1	Sutures (Suture) 01/2011