β-Galactosidase in mucopolysaccharidoses and mucolipidoses. deficiency of GM1 β-galactosidase in liver and leukocytes
✍ Scribed by Suzuki Yoshiyuki; Fukuoka Kazuko; Wey Jau Jinn; Handa Shizuo
- Book ID
- 115821959
- Publisher
- Elsevier Science
- Year
- 1977
- Tongue
- English
- Weight
- 482 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0009-8981
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The uptake and catabolism of [3H-ceramide]-GM1 was followed in living fibroblasts from patient with different forms of beta-galactosidase deficiency. Gangliosides are identified according to the nomenclature of Svennerholm (1963). A total inability to metabolize the ingested substrate was found in i
Six juvenile and adult patients with progressive neurological diseases and beta-galactosidase deficiency were reported. Any diseases known to date were denied. These cases together with ten case reports in the literature were reviewed and were classified into three groups from clinical and biochemic