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Fatma Kamoun Selected Research

Retinaldehyde (Retinal)

12/2021Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.

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Fatma Kamoun Research Topics

Disease

1Metachromatic Leukodystrophy (Sulfatide Lipidosis)
10/2023
1Intellectual Disability (Idiocy)
10/2023
1Skin Manifestations
09/2023
1Dermatomyositis (Dermatopolymyositis)
09/2023
1Myositis (Idiopathic Inflammatory Myopathies)
09/2023
1Microcephaly
12/2021
1Ganglion Cysts (Ganglion)
12/2021
1Mixed Conductive-Sensorineural Hearing Loss
12/2021
1Opsoclonus-Myoclonus Syndrome (Kinsbourne Syndrome)
10/2021
1Infantile Spasms (West Syndrome)
02/2019
1Lymphadenitis (Adenitis)
03/2017
1Rickets (Rachitis)
01/2017
1Pernicious Anemia
01/2017
1Alopecia (Baldness)
01/2017
1Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia)
01/2017
1Leukocytosis (Pleocytosis)
01/2015
1type 2C Limb-girdle muscular dystrophy
07/2012
1Limb-girdle muscular dystrophy type 2A
04/2011
1Rett Syndrome (Rett's Disorder)
02/2009
1Warts (Wart)
04/2002

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
09/2023 - 07/2012
1Cerebroside-Sulfatase (Arylsulfatase A)IBA
10/2023
1Brain-Derived Neurotrophic Factor (BDNF)IBA
10/2023
1Creatine Kinase (Creatine Phosphokinase)IBA
09/2023
1AntibodiesIBA
09/2023
1Retinaldehyde (Retinal)IBA
12/2021
1Lamotrigine (Lamictal)FDA LinkGeneric
10/2021
1Interleukin-12 (IL 12)IBA
03/2017
11,25-dihydroxyvitamin DIBA
01/2017
1DNA (Deoxyribonucleic Acid)IBA
01/2017
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
01/2017
1Calcitriol Receptors (Calcitriol Receptor)IBA
01/2017
1LigandsIBA
01/2017
1Glucose (Dextrose)FDA LinkGeneric
01/2015
1Blood Glucose (Blood Sugar)IBA
01/2015
1RNA (Ribonucleic Acid)IBA
04/2011
1Complementary DNA (cDNA)IBA
04/2011
1Nonsense Codon (Nonsense Mutation)IBA
04/2011
1Messenger RNA (mRNA)IBA
04/2011
1Methyl-CpG-Binding Protein 2IBA
02/2009
1Cimetidine (Biomet)FDA LinkGeneric
04/2002

Therapy/Procedure

1Therapeutics
04/2002