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Digitale Medien

The genetic mucolipidoses (1970)

Spranger, J. W. ; Wiedemann, H.-R.

Springer

Human genetics 〈Berlin〉 9 (1970), S. 113-139

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Details

ISSN: 1432-1203

Quelle: Springer Online Journal Archives 1860-2000

Thema: Biologie , Medizin

Notizen: Summary This review is an attempt to define a group of storage diseases which exhibit signs and symptoms of both the mucopolysaccharidoses and sphingolipidoses. Lacking some of the characteristics of the mucopolysaccharidoses while resembling to this group of thesaurismoses in other respects, these diseases frequently were described as “Hurler variants”. In Gm1 gangliosidosis types I and II, Fucosidosis, Mannosidosis and in infantile Sulfatidosis with mucopolysacchariduria enzyme defects have been identified which are thought to be causally related to the diseases. In others the pathogenesis is unknown. They are tentatively named Mucolipidosis I, II and III.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00278928

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