Application of a GM1 ganglioside β-galactosidase microassay method to diagnosis of GM1 gangliosidosis
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference22 articles.
1. Generalized gangliosidosis: beta-galactosidase deficiency;Okada;Science,1968
2. β-Galactosidase in tissue culture derived from human skin and bone marrow: enzyme defect in GM1 gangliosidosis;Sloan;Pediatr Res,1969
3. β-d-Galactosidase in human urine;Thomas;J Lab Clin Med,1969
4. Macular cherry-red spot. corneal clouding, and β-galactosidase deficiency;Goldberg;Arch Int Med,1971
5. Angiokeratoma corporis diffusum and lysosomal enzyme deficiency;oonen;Lancet,1974
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1. Abnormal cross‐talk between mutant presenilin 1 ( I143T, G384A ) and glycosphingolipid biosynthesis;The FASEB Journal;2012-04-16
2. Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes;Brazilian Journal of Medical and Biological Research;2000-09
3. Purification and characterization of human liver β-galactosidase from a patient with the adult form of GM1 gangliosidosis and a normal control;Biochimica et Biophysica Acta (BBA) - General Subjects;1988-02
4. A microassay for acid β-galactosidase activity toward asialofetuin;Clinica Chimica Acta;1985-11
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