Enzyme based diagnosis of type 1 and 2 neuronal ceroid lipofuscinoses

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

Characterization of 42 Egyptian Children with Lysosomal Storage Disorders

Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis

Gaucher disease: Recent advances in the diagnosis and management.

Screening For Very Long Chain Fatty Acids in Egyptian Children with Inherited Peroxisomal Disorders

Cardiac Affection in Lysosomal Storage Disorders: Review Article

Galactose-1-Phosphate and Galactitol in Red Blood Cells of Galactosemia Patients

AMNIOTIC FLUID SPECIFIC BIOCHEMICAL PARAMETERS FOR PRENATAL DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS IN NON-IMMUNE HYDROPS FETALIS

Evaluation of the screening value of the activity of Chitotriosidase enzyme in plasma and in dried blood spots for the detection of lysosomal storage disorders