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Aizeddin A Mhanni Selected Research
Aizeddin A Mhanni Research Topics
Disease
1
Sulfite oxidase deficiency
12/2020
1
Ectopia Lentis
12/2020
1
Neurologic Manifestations (Neurological Manifestations)
12/2020
1
Fabry Disease (Fabry's Disease)
09/2020
1
Retinitis Pigmentosa (Pigmentary Retinopathy)
08/2015
1
Ciliopathies
08/2015
1
Periventricular Nodular Heterotopia
06/2014
1
Guanidinoacetate methyltransferase deficiency
01/2014
1
Respiratory Insufficiency (Respiratory Failure)
01/2013
1
Hypophosphatasia
01/2013
1
Metabolic Bone Diseases (Osteopenia)
01/2013
1
Neurodegenerative Diseases (Neurodegenerative Disease)
01/2012
1
Infantile onset spinocerebellar ataxia
01/2012
1
Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
04/2009
1
Epilepsia Partialis Continua
04/2009
1
Brain Diseases (Brain Disorder)
04/2009
1
Mitochondrial Diseases (Mitochondrial Disease)
04/2009
Drug/Important Bio-Agent (IBA)
2
Proteins (Proteins, Gene)
FDA Link
08/2015 - 04/2009
1
S-sulphocysteine
IBA
12/2020
1
Uric Acid (Urate)
IBA
12/2020
1
Thiosulfates
IBA
12/2020
1
Sulfur
IBA
12/2020
1
Sulfites
IBA
12/2020
1
Proteasome Endopeptidase Complex (Proteasome)
IBA
08/2015
1
G-Protein-Coupled Receptors (Receptors, G Protein Coupled)
IBA
08/2015
1
Retinaldehyde (Retinal)
IBA
08/2015
1
Ubiquitin
IBA
08/2015
1
RNA Precursors (Precursor, mRNA)
IBA
08/2015
1
Filamins
IBA
06/2014
1
Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)
IBA
01/2014
1
Alkaline Phosphatase
IBA
01/2013
1
N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))
IBA
01/2013
1
Isoenzymes
IBA
01/2013
1
Mitochondrial DNA (mtDNA)
IBA
01/2012
1
Carbohydrates
IBA
04/2009
Therapy/Procedure
1
Enzyme Replacement Therapy
09/2020
1
Ketogenic Diet
04/2009