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Inherited Variation and Metabolic Abnormality
Human Heredity and Its Biochemical Bases
Familial Goiter John B Stanbury
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1-phosphate abnormal Acta activity adrenal albinism alcaptonuria amino acids amounts anemia appears attacks BAIB bilirubin Biochem Biol biosynthesis blood brain carbohydrate cells cent cerebrosides Chem chemical cholesterol Clin clinical compounds concentration congenital copper defect demonstrated diabetes diet effect enzymatic enzyme erythrocytes evidence excretion fatty acids formation fructose galactose gangliosides Gaucher's disease gene genetic gland glucose 6-phosphate glucuronide glycine glycogen goiter gout gouty hemochromatosis hemoglobin hepatic homogentisic acid hormone hyperlipemia increased inheritance insulin iron L-xylulose labeled iodine lipid lipoproteins liver mechanism metabolism metabolites molecule muscle normal nucleotides observed occur oxalate oxidase oxidation pathway patients pentosuria periodic paralysis phenylalanine phenylketonuria phenylpyruvic phosphate phosphorylase physiol pigment plasma porphyrins potassium precursor present Proc protein purine reaction renal reported serum sodium sphingomyelin steroid studies subjects suggested syndrome synthesis thyroid tion tissue tyrosine urate uric acid urinary urine vitro Wilson's disease xanthine Ztschr