About the Book
Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pages: 98. Chapters: Defects of enzyme cofactors, Inborn errors of metabolism, Porphyria, Myoadenylate deaminase deficiency, Glycogen storage disease type V, Lesch-Nyhan syndrome, Newborn screening, Glycogen storage disease type II, Hypophosphatasia, Congenital disorder of glycosylation, Carnitine palmitoyltransferase II deficiency, Chronic granulomatous disease, Gilbert's syndrome, LEOPARD syndrome, Inborn error of metabolism, X-linked ichthyosis, Paroxysmal nocturnal hemoglobinuria, Noonan syndrome, Glycine encephalopathy, Galactosemia, Lysosomal storage disease, Erythropoietic protoporphyria, Trimethylaminuria, Haemophilia A, Acute intermittent porphyria, Crigler-Najjar syndrome, Hereditary coproporphyria, Hereditary multiple exostoses, Congenital adrenal hyperplasia due to 11 -hydroxylase deficiency, Menkes disease, Barth syndrome, Adenylosuccinate lyase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Fumarase deficiency, Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, Incontinentia pigmenti, 3-Methylglutaconic aciduria, Infantile Refsum disease, Mitochondrial trifunctional protein deficiency, Metab-L, Smith-Lemli-Opitz syndrome, Schindler disease, Adenosine deaminase deficiency, Short-chain acyl-coenzyme A dehydrogenase deficiency, Ornithine translocase deficiency, Systemic primary carnitine deficiency, Glucose-galactose malabsorption, Kostmann syndrome, Dihydropyrimidine dehydrogenase deficiency, Pyruvate carboxylase deficiency, Idiosyncrasy, Hyper-IgD syndrome, Tangier disease, Walker-Warburg syndrome, Galactose-1-phosphate uridylyltransferase galactosemia, Miller syndrome, Pyruvate kinase deficiency, N-Acetylglutamate synthase deficiency, D-Glyceric acidemia, Lecithin cholesterol acyltransferase deficiency, Malonyl-CoA decarboxylase deficiency, Hereditary fructose intolera...
