A rare mutation in an Egyptian family with Sanfilippo B syndrome

Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease

Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients

Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants

Characterization of 42 Egyptian Children with Lysosomal Storage Disorders

Mutational Screening of (CLN6), (CLN7) and (CLN14) Genes in Egyptian Patients with Neuronal Ceroid Lipofuscinosis.

Biochemical Diagnosis of Peroxisomal Disorders by GC/MS: Egyptian Patients with X-linked Adrenoleukodystrophy

Autism spectrum disorder and achondroplasia in an Egyptian patient

Molecular analysis among a group of Egyptian Duchenne muscular dystrophy patients using real-time PCR