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Aizeddin A Mhanni Selected Research

Aizeddin A Mhanni Research Topics

Disease

1Sulfite oxidase deficiency
12/2020
1Ectopia Lentis
12/2020
1Neurologic Manifestations (Neurological Manifestations)
12/2020
1Fabry Disease (Fabry's Disease)
09/2020
1Retinitis Pigmentosa (Pigmentary Retinopathy)
08/2015
1Ciliopathies
08/2015
1Periventricular Nodular Heterotopia
06/2014
1Guanidinoacetate methyltransferase deficiency
01/2014
1Respiratory Insufficiency (Respiratory Failure)
01/2013
1Hypophosphatasia
01/2013
1Metabolic Bone Diseases (Osteopenia)
01/2013
1Neurodegenerative Diseases (Neurodegenerative Disease)
01/2012
1Infantile onset spinocerebellar ataxia
01/2012
1Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
04/2009
1Epilepsia Partialis Continua
04/2009
1Brain Diseases (Brain Disorder)
04/2009
1Mitochondrial Diseases (Mitochondrial Disease)
04/2009

Drug/Important Bio-Agent (IBA)

2Proteins (Proteins, Gene)FDA Link
08/2015 - 04/2009
1S-sulphocysteineIBA
12/2020
1Uric Acid (Urate)IBA
12/2020
1ThiosulfatesIBA
12/2020
1SulfurIBA
12/2020
1SulfitesIBA
12/2020
1Proteasome Endopeptidase Complex (Proteasome)IBA
08/2015
1G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA
08/2015
1Retinaldehyde (Retinal)IBA
08/2015
1UbiquitinIBA
08/2015
1RNA Precursors (Precursor, mRNA)IBA
08/2015
1FilaminsIBA
06/2014
1Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA
01/2014
1Alkaline PhosphataseIBA
01/2013
1N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA
01/2013
1IsoenzymesIBA
01/2013
1Mitochondrial DNA (mtDNA)IBA
01/2012
1CarbohydratesIBA
04/2009

Therapy/Procedure

1Enzyme Replacement Therapy
09/2020
1Ketogenic Diet
04/2009