HYPERAMMONEMIA DUE TO A MUTANT ENZYME OF ORNITHINE TRANSCARBAMYLASE
Keyword(s):
In a case of congenital hyperammonemia described in an 8½-month-old girl, elevated blood ammonia was shown to result from a mutant enzyme of ornithine transcarbamylase. An in vitro study indicated a decrease in affinity of the enzyme for carbamyl phosphate but not for ornithine.
1998 ◽
Vol 5
(1)
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pp. 86A-86A
2001 ◽
Vol 17
(6)
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pp. 272-277
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1998 ◽
Vol 31
(2)
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pp. 111A
2016 ◽
Vol 64
(S 01)
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1992 ◽
Vol 28
(3)
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pp. 399
2003 ◽
Vol 48
(1)
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pp. 7
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