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" Inborn Errors of Calcium and Bone Metabolism : "
H Bickel
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BL
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| Record Number
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775949
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b595945
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| Main Entry
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H Bickel
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| Title & Author
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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.\ H Bickel
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| Publication Statement
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Dordrecht : Springer Netherlands, 1984
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(388 pages)
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| ISBN
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9401161593
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: 9789401161596
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| Contents
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Front ; Contents; Preface; Contributors and Active Participants; Hormones derived from vitamin D : Their regulation and function; Intestinal absorption of calcium and phosphorus in adult man in health and disease; Human parathyroid hormone: Immunochemical studies and determination of circulating hormone in patients with primary hyperparathyroidism and renal insufficiency; Parathyroid hormone in hereditary diseases of mineral metabolism; 5 Parathyroid function in infants and children. Use of I,25-dihydroxycholecalciferol (I,25(OH)2D3) in the treatment of hypoparathyroidism and pseudoƯhypoparathyroidism7 Calcitonin: Recent advances in genetic and physiological aspects; Aspects of growth and bone structure in hypophosphataemic rickets; Pseudovitamin D deficiency (vitamin D dependency); Metabolic forms of rickets (and osteomalacia); X-linked hypophosphataemia and autosomal recessive vitamin D dependency: Models for the resolution of vitamin D refractory rickets; IGC-hydroxyvitamin D : A comparative study in children; 13 Tubular Fanconi Syndromes with bone involvement. Diseases of bone in search of an inborn error15 Idiopathic juvenile osteoporosis; Metabolic effects of a diphosphonate in the treatment of ectopic calcification in children; Cartilage chemistry in bone dysplasias with neonatal presentation; Calcium and vitamin D metabolism during anticonvulsant therapy; a-Aminoadipic aciduria, a new inborn error of lysine metabolism; a-Ketoadipic aciduria --; a new inborn defect of lysine degradation; Phenylketonuria variants; Phenylalanine hydroxylase determinations in patients with phenylketonuria and hyperphenylalaninaemia. A patient with a permanent chemical phenylketonuria and a normal phenylalanine toleranceUse of a semi-synthetic amino acid, 3-methoxyphenyl-L-alanine to measure amino acid absorption; 25 Animal models for histidinaemia; Galactokinase deficiency in an Italian infant; 27 Homocystinuria : Cyst(e)ine levels in the plasma; Index.
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| LC Classification
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RC930.H353 1984
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H Bickel
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J Stern
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