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The enzymatic diagnosis of GM1 gangliosidosis, including the diagnosis of heterozygosity, requires a microassay of GM1 ganglioside beta-galactosidase activity in lymphocytes and cultured skin fibroblasts. We have adopted high-performance liquid chromatography (HPLC) to the assay of this enzyme and can measure the activity in crude samples fluorometrically. Reaction conditions were examined to determine those optimal for the assay of GM1 ganglioside beta-galactosidase activity in lymphocyte and skin fibroblast homogenates. Under these optimal conditions, reduced enzymatic activities could be detected in lymphocytes and cultured skin fibroblasts from three patients with GM1 gangliosidosis. Thus, this assay can be used for the diagnosis, rather than the usual assays employing radioactive or artificial substrates.
T Mutoh, and
K Kiuchi, and
I Sobue, and
M Naoi
April 1988,
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme,
T Mutoh, and
K Kiuchi, and
I Sobue, and
M Naoi
September 1968,
Clinica chimica acta; international journal of clinical chemistry,
T Mutoh, and
K Kiuchi, and
I Sobue, and
M Naoi
April 1988,
Journal of chromatography,
T Mutoh, and
K Kiuchi, and
I Sobue, and
M Naoi
February 1974,
Pediatric research,
T Mutoh, and
K Kiuchi, and
I Sobue, and
M Naoi
April 1977,
The Veterinary record,
T Mutoh, and
K Kiuchi, and
I Sobue, and
M Naoi
June 1994,
Pediatric neurology,
T Mutoh, and
K Kiuchi, and
I Sobue, and
M Naoi
October 1978,
Acta neurologica Scandinavica,
T Mutoh, and
K Kiuchi, and
I Sobue, and
M Naoi
July 1973,
Research in veterinary science,
T Mutoh, and
K Kiuchi, and
I Sobue, and
M Naoi
July 1986,
Journal of biochemistry,
T Mutoh, and
K Kiuchi, and
I Sobue, and
M Naoi
May 1986,
The Journal of biological chemistry,
