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Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.

作者信息

Levin B, Abraham J M, Oberholzer V G, Burgess E A

出版信息

Arch Dis Child. 1969 Apr;44(234):152-61. doi: 10.1136/adc.44.234.152.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aeaf/2020046/49efcfa24283/archdisch01551-0014-a.jpg

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Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.
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Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.
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Ornithine transcarbamylase deficiency in the newborn infant.
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引用本文的文献

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Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium.
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2
Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.
J Pediatr. 2014 Apr;164(4):720-725.e6. doi: 10.1016/j.jpeds.2013.12.024. Epub 2014 Jan 30.
3
Recurrent abdominal pain in childhood.
Br Med J. 1980 Aug 2;281(6236):389. doi: 10.1136/bmj.281.6236.389.
4
X-linked dominant inherited diseases with lethality in hemizygous males.
Hum Genet. 1983;64(1):1-23. doi: 10.1007/BF00289472.
6
Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein.
J Inherit Metab Dis. 1984;7(1):2-8. doi: 10.1007/BF01805609.
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Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.
Arch Dis Child. 1969 Apr;44(234):162-9. doi: 10.1136/adc.44.234.162.
8
Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.
Arch Dis Child. 1969 Dec;44(238):688-93. doi: 10.1136/adc.44.238.688.

本文引用的文献

1
Argininosuccinic aciduria, an inborn error of amino acid metabolism.
Arch Dis Child. 1961 Dec;36(190):622-32. doi: 10.1136/adc.36.190.622.
3
THE RENAL EXCRETION OF HYDROGEN IONS IN INFANTS AND CHILDREN.
Arch Dis Child. 1965 Feb;40(209):33-9. doi: 10.1136/adc.40.209.33.
4
CITRULLINURIA.
Pediatrics. 1963 Sep;32:347-57.
5
Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea.
Lancet. 1962 Oct 6;2(7258):699-700. doi: 10.1016/s0140-6736(62)90508-1.
6
The estimation of plasma ammonia by ion exchange.
Clin Chim Acta. 1962 Mar;7:163-75. doi: 10.1016/0009-8981(62)90004-9.
9
The free amino acids of human blood plasma.
J Biol Chem. 1954 Dec;211(2):915-26.
10
Arginosuccine aciduria.
Am J Dis Child. 1967 Jan;113(1):162-5.

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