一名患有甲基丙二酸单酰辅酶A变位酶缺乏症的新生儿出现严重高氨血症。 - Suppr

Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.

作者信息

Packman S, Mahoney M J, Tanaka K, Hsia Y E

出版信息

J Pediatr. 1978 May;92(5):769-71. doi: 10.1016/s0022-3476(78)80147-4.

DOI:10.1016/s0022-3476(78)80147-4

PMID:25314

Abstract

摘要

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Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.

J Pediatr. 1978 May;92(5):769-71. doi: 10.1016/s0022-3476(78)80147-4.

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[Hyperammonemia in childhood. II. Enzymopathies not related to the urea cycle].

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Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin.

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A case of methylmalonic and propionic acidemia due to methulmalonyl-CoA carbonylmutase apoenzyme deficiency.

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J Pediatr. 1977 Sep;91(3):428-30. doi: 10.1016/s0022-3476(77)81313-9.

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Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.

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Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.

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