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

  • J. B. Holton
  • J. T. Ireland

Table of contents

  1. Front Matter
    Pages i-xiii
  2. Inborn Errors and Skin

    1. Front Matter
      Pages 1-1
    2. P. C. H. Newbold
      Pages 3-16
  3. Inborn Errors and Hair

    1. Front Matter
      Pages 17-17
  4. Inborn Errors of Connective Tissue

    1. Front Matter
      Pages 37-37
    2. Michael E. Grant
      Pages 83-104
    3. David A. Hall
      Pages 139-146
    4. The Second Milner Lecture

      1. Albert Dorfman, Reuben Matalon, Jerry N. Thompson, J. Anthony Cifonelli, Glyn Dawson, Allen C. Stoolmiller et al.
        Pages 163-177
      2. Lars-Åke Fransson, Ingrid Sjöberg, Albert Dorfman, Reuben Matalon
        Pages 179-201
      3. Ulrich N. Wiesmann
        Pages 203-225
  5. Laboratory Aspects of the Mucopolysaccharidoses Including Diagnosis and Screening

  6. Back Matter
    Pages 285-287

About this book


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.


ageing aging biosynthesis chemistry diagnosis metabolic disorder metabolism newborn polysaccharide protein proteins screening skin tissue treatment

Editors and affiliations

  • J. B. Holton
    • 1
  • J. T. Ireland
    • 2
  1. 1.Biochemistry LaboratorySouthmead HospitalBristolUK
  2. 2.Biochemistry LaboratoryAlder Hey Children’s HospitalLiverpoolUK

Bibliographic information

  • DOI
  • Copyright Information Springer Science+Business Media B.V. 1975
  • Publisher Name Springer, Dordrecht
  • eBook Packages Springer Book Archive
  • Print ISBN 978-94-011-6617-1
  • Online ISBN 978-94-011-6615-7
  • Buy this book on publisher's site