Under recognition of late onset ornithine transcarbamylase deficiency.
نویسندگان
چکیده
Late onset ornithine transcarbamylase deficiency (McKusick 311250) is reported in four Finnish patients, two boys and two heterozygous girls. The subtle onset and course of ornithine transcarbamylase deficiency emphasises the need for plasma ammonia and amino acid measurements in clinical situations suggesting a disorder of this nature.
منابع مشابه
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy
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متن کاملCoagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication.
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 82 5 شماره
صفحات -
تاریخ انتشار 2000