Inborn Errors of Skin, Hair and Connective Tissue: Monograph Based Upon Proceedings of the Eleventh Symposium of the Society for the Study of Inborn E

ISBN-13: 9789401166171 / Angielski / Miękka / 2012 / 287 str.

J. B. Holton; J. T. Ireland

Opis

Following the pattern of previous years the 11th symposium of the S.S.I.E.M. held in the beautiful sylvan surroundings of Sussex Univ- ersity, concentrated on a relatively small section of the field of inborn errors. The subject chosen-Inborn Errors of Skin, Hair and Con- nective Tissue, was a highly topical one. Intensive research during the last few years particularly on the structure and disorders of connective tissue has considerably advanced our knowledge on this subject. We believe that the range of diseases covered, and the depth in which they were discussed, made this meeting unique. The proceedings contain much original material and reference information which should make them an invaluable addition to the literature on metabolic disorders. The work involved is multi-disciplinary involving among others physicists, organic chemists, biochemists, clinical chemists, paedia- tricians, physicians, geneticists and neurologists. The bringing together of workers of many disciplines to contribute to the particular subject under discussion at our Symposia has always been an important objective of the Society. In this case we were very fortunate in gathering together experts from all the fields mentioned above. In particular we were honoured that Professor A. Dorfman of Chicago could accept our invitation to give the second Milner Lecture. We were also privileged to have some excellent contributions from the research scientists on whom we must rely for our ultimate understanding of the diseases, and rational approach to treatment.

Spis treści

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.