INDEX 



Abetalipoproteinemia, 109 



AB variant, GM2 gangliosidosis, 42 



Acatalaseraia, 49 



Acatalasia, 49 



Acid sialidase deficiency, 40 



Addison disease and cerebral sclerosis, 51 



Adenosine deaminase deficiency, 45 



Adenosine phosphoribosyltransferase deficiency, 46 



Adrenal hyperplasia, 51, 112 



Adrenogenital syndrome, 51, 112 



Adrenoleukodystrophy , 51 



Agammaglobinemia, 51 



Alkaptonuria, 26 



Allergic asthmatic, 121 



Alzheimer disease of brain, 51, 126 



Amino acid metabolism, disorders of, 26-31, 107, 108 



Amyloidosis, 31 



Amniotic fluid, 105, 106 



Andersen disease, 34 



Angiokeratoma, diffuse, 40, 41, 105 



Animal cell cultures, 124, 125 



Argininemia, 26, 107 



Argininosuccinicaciduria, 26 



Aspartylglycosaminuria, 31 



Ataxia-telangiectasia, 63, 119 



Basal cell nevus syndrome, 51, 112 



Becker muscular dystrophy, 59 



Beckwith-Wiederaann syndrome, 51 



Beta-glucuronidase deficiency, 40 



Biochemical markers, 99-101 



Biochemical mutant conditions, 26-62, 105, 107-118, 123, 126, 127 



Bloom syndrome, 63, 126 



Branched-chain ketoaciduria, 29, 30, 108 



Campomelic dwarf, 51 



Canavan disease, 52 



Carbohydrate metabolism, disorders of, 31-40, 108, 109 



Carnitine palmitoyl-CoA transferase deficiency, 40 



Cartilage-hair hypoplasia, 52 



CNS disorder, unclassified, hereditary, 52 



Ceroid-lipofuscinosis, 40 



Chediak-Higashi syndrome, 52 



Cholesterol ester storage disease of liver, 40 



Chondrodysplasia punctata, 52 



Chondrodystrophy, 52 



Chromosomal aberrations, 63-101, 105, 106, 119, 120, 127 



167 



