Covers 139 Disorders : Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, G6PD Deficiency, Cystic Fibrosis, Aminoacidopathies, Organic Acidemias, Fatty Acid Oxidation Disorders, Disorders of carbohydrate metabolism, Peroxisomal Disorders, Purine / Pyrimidine Metabolism Disorders, Disorders of TCA Cycle / Mitochondrial Dysfunction, Neurotransmitter Metabolism Disorders.





