Mucopolysaccharidosis in Egyptian children : Clinical and biochemical profile of 20 cases

Molecular diagnosis of mitochondrial and nuclear DNA mutations among Egyptian children with mitochondrial encephalomyopathies

Identification of common mutationscausing Wilson disease in Egyptian children

Molecular characterization of 21 hydroxylase deficiency of congenital adrenal hyperplasia in Egyptian children

Genetic study in Egyptian children with Wilson disease

Organic aciduria in Egyptianinfants and children

Mutation analysis of steroid 21 hydroxylase gene in a group of Egyptian children with congenital adrenal hyperplasia

A pilot study for the prevalence of methylenetetrahydrofolate reductase gene mutation in Egyptian children with homocystinuria

Clinical, radiological and molecular studies of Egyptianchildren with achondroplasia

Plasma chitotriosidase enzyme activity in Egyptian patients with nephropathic cystinosis