Inborn Errors of Calcium and Bone Metabolism : Monograph based upon Proceedings of the Twelfth Symposium of the Society for the Study of Inborn Errors of Metabolism

Content: Front Matter....Pages i-xvii Hormones derived from vitamin D: Their regulation and function....Pages 1-20 Intestinal absorption of calcium and phosphorus in adult man in health and disease....Pages 21-38 Human parathyroid hormone: Immunochemical studies and determination of circulating hormone in patients with primary hyperparathyroidism and renal insufficiency....Pages 39-51 Parathyroid hormone in hereditary diseases of mineral metabolism....Pages 52-62 Parathyroid function in infants and children....Pages 63-75 Use of 1,25-dihydroxycholecalciferol (1,25(OH)2D3) in the treatment of hypoparathyroidism and pseudohypoparathyroidism....Pages 76-80 Calcitonin: Recent advances in genetic and physiological aspects....Pages 81-92 Aspects of growth and bone structure in hypophosphataemic rickets....Pages 93-114 Pseudovitamin D deficiency (vitamin D dependency)....Pages 115-123 Metabolic forms of rickets (and osteomalacia)....Pages 124-149 X-linked hypophosphataemia and autosomal recessive vitamin D dependency: Models for the resolution of vitamin D refractory rickets....Pages 150-178 1α-hydroxyvitamin D : A comparative study in children....Pages 179-190 Tubular Fanconi Syndromes with bone involvement....Pages 191-213 Diseases of bone in search of an inborn error....Pages 214-221 Idiopathic juvenile osteoporosis....Pages 222-238 Metabolic effects of a diphosphonate in the treatment of ectopic calcification in children....Pages 239-248 Cartilage chemistry in bone dysplasias with neonatal presentation....Pages 249-255 Calcium and vitamin D metabolism during anticonvulsant therapy....Pages 256-266 α-Aminoadipic aciduria, a new inborn error of lysine metabolism....Pages 267-270 α-Ketoadipic aciduria — a new inborn defect of lysine degradation....Pages 271-285 Phenylketonuria variants....Pages 286-290 Phenylalanine hydroxylase determinations in patients with phenylketonuria and hyperphenylalaninaemia....Pages 291-296 A patient with a permanent chemical phenylketonuria and a normal phenylalanine tolerance....Pages 297-303 Use of a semi-synthetic amino acid, 3-methoxyphenyl-l-alanine to measure amino acid absorption....Pages 304-306 Animal models for histidinaemia....Pages 307-316 Galactokinase deficiency in an Italian infant....Pages 317-324 Homocystinuria: Cyst(e)ine levels in the plasma....Pages 325-326 Discussion on Paper I....Pages 327-367 Back Matter....Pages 369-373