عنوان
پدید آورنده
موضوع
رده
کتابخانه
محل استقرار
INTERNATIONAL STANDARD BOOK NUMBER
(Number (ISBN
9401166153
(Number (ISBN
9789401166157
NATIONAL BIBLIOGRAPHY NUMBER
Number
b536034
TITLE AND STATEMENT OF RESPONSIBILITY
Title Proper
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.
General Material Designation
[Book]
First Statement of Responsibility
Holton, J.B.; Ireland, J.T.
.PUBLICATION, DISTRIBUTION, ETC
Name of Publisher, Distributor, etc.
Springer Verlag
Date of Publication, Distribution, etc.
2013
CONTENTS NOTE
Text of Note
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.
PERSONAL NAME - PRIMARY RESPONSIBILITY
Holton, J.B.; Ireland, J.T.
PERSONAL NAME - ALTERNATIVE RESPONSIBILITY
Holton, J.B.; Ireland, J.T.
ELECTRONIC LOCATION AND ACCESS
Electronic name
مطالعه متن کتاب [Book]
Y
