Inborn Errors of Skin, Hair and Connective Tissue

1. Front Matter

   Pages i-xiii

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2. Inborn Errors and Skin

   1. Front Matter

      Pages 1-1

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   2. Inborn errors of skin

      • P. C. H. Newbold

      Pages 3-16

3. Inborn Errors and Hair

   1. Front Matter

      Pages 17-17

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   2. Inherited conditions affecting the proteins of hair

      • R. J. Pollitt

      Pages 19-25

   3. Some aspects of the use of hair follicles for the biochemical study of inborn errors of metabolism

      • R. W. E. Watts, Dorothy A. Gibbs, R. O. McKeran

      Pages 27-35

4. Inborn Errors of Connective Tissue

   1. Front Matter

      Pages 37-37

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   2. Morphological aspects of the Mucopolysaccharidoses

      • Jurgen Spranger

      Pages 39-60

   3. Glycosaminoglycans of foetal tissue in two cases of Hurler’s syndrome

      • M. F. Dean, Helen Muir

      Pages 61-65

   4. The mucolipidoses: with special reference to I-cell disease

      • Neil Gordon

      Pages 67-81

   5. Structure and Biosynthesis of collagen

      • Michael E. Grant

      Pages 83-104

   6. Biosynthesis of collagen cross-links: Relationship of heritable disorders

      • Allen J. Bailey

      Pages 105-118

   7. Molecular conformations of connective tissue mucopolysaccharides

      • Edward Atkins

      Pages 119-137

   8. Mucopolysaccharides in ageing

      • David A. Hall

      Pages 139-146

   9. Genetic aspects of mucopolysaccharidoses with special reference to heterozygous carriers

      • Walter M. Teller

      Pages 147-160

   10. The Second Milner Lecture

       1. Genetic defects of the degradation of glycosaminoglycans: the mucopolysaccharidoses

          • Albert Dorfman, Reuben Matalon, Jerry N. Thompson, J. Anthony Cifonelli, Glyn Dawson, Allen C. Stoolmiller et al.

          Pages 163-177

       2. Chemistry of dermatan sulphate accumulated intracellularly in Hunter’s disease

          • Lars-Åke Fransson, Ingrid Sjöberg, Albert Dorfman, Reuben Matalon

          Pages 179-201

       3. The treatment of genetic mucopolysaccharidoses

          • Ulrich N. Wiesmann

          Pages 203-225

5. Laboratory Aspects of the Mucopolysaccharidoses Including Diagnosis and Screening

   1. Front Matter

      Pages 227-227

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   2. The laboratory diagnosis of the mucopolysaccharidoses

      • P. W. Lewis, J. F. Kennedy, D. N. Raine

      Pages 229-244

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

• Biochemistry Laboratory, Southmead Hospital, Bristol, UK

  J. B. Holton

• Biochemistry Laboratory, Alder Hey Children’s Hospital, Liverpool, UK

  J. T. Ireland

Policies and ethics