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The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency

โœ Scribed by I. Sebesta; J. Krijt; L. D. Fairbanks; H. A. Simmonds

Publisher
Springer
Year
1994
Tongue
English
Weight
126 KB
Volume
17
Category
Article
ISSN
0141-8955

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Sandhoff disease in Argentina: high freq
Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection
โœ Frida E. Kleiman; Raquel Dodelson Kremer; Ana Oller Ramirez; Roy A. Gravel; Carl ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› Springer ๐ŸŒ English โš– 422 KB

The level of beta-hexosaminidase activity in plasma and leukocytes and the frequency of three known HEXB mutations were studied in an Argentinean deme with high incidence of infantile Sandhoff disease. Two mutations were previously identified in one of two Sandhoff patients from the region, a splice