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" 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. "
Holton, J.B.; Ireland, J.T.
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BL
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| Record Number
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716351
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b536034
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| Main Entry
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Holton, J.B.; Ireland, J.T.
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| Title & Author
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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.\ Holton, J.B.; Ireland, J.T.
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| Publication Statement
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Springer Verlag, 2013
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| ISBN
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9401166153
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: 9789401166157
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| Contents
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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.
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| LC Classification
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RC627.8H658 2013
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| Added Entry
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Holton, J.B.; Ireland, J.T.
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