The treatment of genetic mucopolysaccharidoses View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1975

AUTHORS

Ulrich N. Wiesmann

ABSTRACT

The treatment of genetic disorders has been attempted in recent years and in some of them it has yielded an encouraging success. Especially so in disorders of amino acid metabolism where dietary restrictions are an effective therapy, normal psychomotor development of the otherwise severely damaged children has been reported (Bickel, Gerrard and Hickmann, 1954). However, in most other syndromes of inborn errors of metabolism the outcome of human treatment experiments has been unconvincing (Crocker and Farber, 1962; Green, Hug and Schubert, 1969; Hug and Schubert, 1967; Clausen and Melchior, 1967) even in disorders where the underlying biochemical defect has been known. Treatment of genetic mucopolysaccharidoses by means of dietary restrictions and by use of drugs has been attempted before the biochemical background of the different clinical syndromes has been elucidated (Crocker, 1968; Levin, Fajerman and Jacoby, 1971; DeJong, Robertson and Schafer, 1968). In recent years the biochemical defects have been worked out for a number of different types of mucopolysaccharidoses (Kresse and Neufeld, 1972; Cantz, Chramach and Neufeld, 1970; Neufeld and Cantz, 1971; Matalon and Dorfman, 1972; O’Brien, 1973) and the basis for the substitution of the deficient enzymes has been partially elaborated in tissue culture. (Neufeld et al., 1971; Wiesmann, Rossi and Herschkowitz, 1972). More... »

PAGES

203-225

References to SciGraph publications

Book

TITLE

Inborn Errors of Skin, Hair and Connective Tissue

ISBN

978-94-011-6617-1
978-94-011-6615-7

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-94-011-6615-7_14

DOI

http://dx.doi.org/10.1007/978-94-011-6615-7_14

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007463548


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