About the Book
Chapters: Tay-Sachs disease, Phenylketonuria, Cystic fibrosis, Canavan disease, Wilson's disease, Lafora disease, Alkaptonuria, Abetalipoproteinemia, Sly syndrome, Cenani Lenz syndactylism, Acheiropodia, Glycogen storage disease type V, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Sickle-cell disease, Usher syndrome, Neuronal ceroid lipofuscinosis, Succinic semialdehyde dehydrogenase deficiency, Mucopolysaccharidosis, Glycogen storage disease type II, Iminoglycinuria, Carnitine palmitoyltransferase II deficiency, Niemann-Pick disease, type C, Fanconi anemia, Johanson-Blizzard syndrome, Urbach-Wiethe disease, Sandhoff disease, Glutaric aciduria type 1, Gaucher's disease, Thalassemia, Familial dysautonomia, Lipoid congenital adrenal hyperplasia, Acute fatty liver of pregnancy, Primary ciliary dyskinesia, Pseudoxanthoma elasticum, Shwachman-Bodian-Diamond syndrome, Survival motor neuron spinal muscular atrophy, Situs inversus, Metachromatic leukodystrophy, Finnish heritage disease, Friedreich's ataxia, Gerodermia osteodysplastica, Niemann-Pick disease, Carpenter syndrome, Fibrochondrogenesis, Sickle cell trait, Methemoglobinemia, Trimethylaminuria, Mucolipidosis, Hermansky-Pudlak syndrome, Hypertryptophanemia, Chondrodystrophy, Harlequin type ichthyosis, Donohue syndrome, Carnosinemia, Familial Mediterranean fever, Compound heterozygosity, Batten disease, Dubowitz syndrome, Gastroschisis, Nemaline myopathy, Bloom syndrome, Lamellar ichthyosis, Xeroderma pigmentosum, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Adenylosuccinate lyase deficiency, Hemophagocytic lymphohistiocytosis, Maple syrup urine disease, Fumarase deficiency, Microvillous inclusion disease, Biotinidase deficiency, Cystinosis, Cystinuria, Ellis-van Creveld syndrome, Chediak-Higashi syndrome, Pendred syndrome, Hurler syndrome, Persistent Mullerian duct syndrome, Krabbe disease, Methylmalonic acidemia, Meckel syndrome, Hartnup disease, GM2-gangliosidosis, AB variant, C...
