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Basic findings and current developments in sphingolipidoses (1979)

Pilz, H. ; Heipertz, R. ; Seidel, D.

Springer

Human genetics 〈Berlin〉 47 (1979), S. 113-134

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary Sphingolipidoses are caused by recessively inherited deficiencies of lysosomal hydrolases. The clinical backgrounds of and current biochemical and genetic approaches to the different forms and variants of gangliosidoses, trihexosylceramidosis (Fabry's disease), galactosylceramidosis (Krabbe's disease), sulfatidoses (metachromatic leukodystrophies), glucosylceramidosis (Gaucher's disease), sphingomyelinoses (Niemann-Pick disease) and ceramidosis (Farber's disease) are presented.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00273194

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