Inborn Errors of Skin, Hair and Connective Tissue: Monograph Based Upon Proceedings of the Eleventh Symposium of The Society for the Study of Inborn Errors of Metabolism
Editat de J.B. Holton, J.T. Irelanden Limba Engleză Paperback – 2 mar 2012
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Specificații
ISBN-13: 9789401166171
ISBN-10: 940116617X
Pagini: 304
Ilustrații: XIII, 287 p.
Dimensiuni: 155 x 235 x 16 mm
Greutate: 0.43 kg
Ediția:Softcover reprint of the original 1st ed. 1975
Editura: SPRINGER NETHERLANDS
Colecția Springer
Locul publicării:Dordrecht, Netherlands
ISBN-10: 940116617X
Pagini: 304
Ilustrații: XIII, 287 p.
Dimensiuni: 155 x 235 x 16 mm
Greutate: 0.43 kg
Ediția:Softcover reprint of the original 1st ed. 1975
Editura: SPRINGER NETHERLANDS
Colecția Springer
Locul publicării:Dordrecht, Netherlands
Public țintă
ResearchCuprins
Inborn Errors and Skin.- 1 Inborn errors of skin.- Inborn Errors and Hair.- 2 Inherited conditions affecting the proteins of hair.- 3 Some aspects of the use of hair follicles for the biochiemcal study of inborn errors of metabolism.- Inborn Errors of Connective Tissue.- 4 Morphological aspects of the mucopolysaccharidoses.- 5 Glycosaminoglycans of foetal tissue in two cases of Hurler’s syndrome.- 6 The mucolipidioses: with special reference to I-cell disease.- 7 Structure and biosynthesis of collagen.- 8 Biosynthesis of collagen cross-links : relationship of heritable disorders.- 9 Molecular conformations of connective tissue mucopolysaccharides.- 10 Mucopolysaccharides in ageing.- 11 Genetic aspects of mucopolysaccharidoses with special reference to heterozygous carriers.- The Second Milner Lecture.- 12. Genetic defects of the degradation of glycosaminoglycans: the mucopolysaccharidoses.- 13 Chemistry of dermatan sulphate accumulated intracellularly in Hunter’s disease.- 14 The treatment of genetic mucopolysaccharidoses.- Laboratory Aspects of the Mucopolysaccharides Including diagnosis and screening.- 15 The laboratory diagnosis of the mucopolysaccharidoses.- 16 Screening newborns for mucopolysaccharidoses.- 17 Acid glycosaminoglycan excretion in the mucopolysaccharidoses: determination of glycosaminoglycans in urine and amniotic fluid using new micro-analytical techniques.- 18 An evaluation of methods suitable for a clinical laboratory study of abnormal glycosaminoglycan excretion.