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The enzyme defects in two cases of argininosuccinic aciduria were examined at the molecular level by enzymatic and immunological methods. No argininosuccinate lyase activity was detected in the liver or erythrocytes of either patient nor in the kidney or brain of one of the patients even in the presence of high concentrations of the substrate. The titration curve of antiserum to human argininosuccinate lyase with the liver extract from a control subject was not affected by the addition of the liver extracts from one of the patients. Double immunodiffusion analysis revealed a single precipitin line between the purified antiserum and the liver extract from a control, but no precipitin lines between the antisera and the liver extracts from the two patients. These results indicate a complete or almost complete defect of an immunologically cross-reactive material in the liver of the patients.
K Kobayashi, and
Y Itakura, and
T Saheki, and
K Nakano, and
M Sase, and
K Oyanagi, and
R Okamoto, and
M Mino
February 2011,
American journal of medical genetics. Part C, Seminars in medical genetics,
K Kobayashi, and
Y Itakura, and
T Saheki, and
K Nakano, and
M Sase, and
K Oyanagi, and
R Okamoto, and
M Mino
January 1976,
American journal of human genetics,
K Kobayashi, and
Y Itakura, and
T Saheki, and
K Nakano, and
M Sase, and
K Oyanagi, and
R Okamoto, and
M Mino
June 1973,
Clinica chimica acta; international journal of clinical chemistry,
K Kobayashi, and
Y Itakura, and
T Saheki, and
K Nakano, and
M Sase, and
K Oyanagi, and
R Okamoto, and
M Mino
September 2015,
Journal of inherited metabolic disease,
K Kobayashi, and
Y Itakura, and
T Saheki, and
K Nakano, and
M Sase, and
K Oyanagi, and
R Okamoto, and
M Mino
October 2002,
The Tohoku journal of experimental medicine,
K Kobayashi, and
Y Itakura, and
T Saheki, and
K Nakano, and
M Sase, and
K Oyanagi, and
R Okamoto, and
M Mino
September 1980,
American journal of human genetics,
K Kobayashi, and
Y Itakura, and
T Saheki, and
K Nakano, and
M Sase, and
K Oyanagi, and
R Okamoto, and
M Mino
January 2012,
Journal of inherited metabolic disease,
K Kobayashi, and
Y Itakura, and
T Saheki, and
K Nakano, and
M Sase, and
K Oyanagi, and
R Okamoto, and
M Mino
December 1978,
Proceedings of the National Academy of Sciences of the United States of America,
K Kobayashi, and
Y Itakura, and
T Saheki, and
K Nakano, and
M Sase, and
K Oyanagi, and
R Okamoto, and
M Mino
November 2013,
The Journal of biological chemistry,
K Kobayashi, and
Y Itakura, and
T Saheki, and
K Nakano, and
M Sase, and
K Oyanagi, and
R Okamoto, and
M Mino
February 1986,
Archives of pathology & laboratory medicine,
