عنوان

Inborn Errors of Calcium and Bone Metabolism :

(Number (ISBN

9401161593

(Number (ISBN

9789401161596

Number

b595945

Title Proper

Inborn Errors of Calcium and Bone Metabolism :

General Material Designation

[Book]

Other Title Information

Monograph based upon Proceedings of the Twelfth Symposium of the Society for the Study of Inborn Errors of Metabolism.

First Statement of Responsibility

H Bickel

Place of Publication, Distribution, etc.

Dordrecht

Name of Publisher, Distributor, etc.

Springer Netherlands

Date of Publication, Distribution, etc.

1984

Specific Material Designation and Extent of Item

(388 pages)

Text of Note

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.

Class number

Book number

H Bickel

H Bickel

J Stern

Electronic name

[Book]

Y