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An Extremely Rare Cause of Hyperammonemic Encephalopathy in an Infant.

作者信息

Ganesh R, Karthik Narayanan R

机构信息

Department of Pediatric Inherited Metabolic Diseases, Rainbow Children's Hospital, Chennai, 600015, Tamil Nadu, India.

Department of Pediatric Critical Care, Rainbow Children's Hospital, Chennai, 600015, Tamil Nadu, India.

出版信息

Indian J Pediatr. 2024 Jan;91(1):88. doi: 10.1007/s12098-023-04818-z. Epub 2023 Aug 23.

DOI:10.1007/s12098-023-04818-z
PMID:37610685
Abstract
摘要

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本文引用的文献

1
Carbonic Anhydrase-VA Deficiency: A Close Mimicker of Urea Cycle Disorders.碳酸酐酶VA缺乏症:尿素循环障碍的相似病症
Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):820-821. doi: 10.4103/aian.AIAN_563_20. Epub 2021 Mar 18.
2
Two cases of carbonic anhydrase VA deficiency-An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome.两例碳酸酐酶VA缺乏症——一种表现为高氨血症、乳酸性酸中毒、酮尿症且临床预后良好的极其罕见的代谢性失代偿综合征。
JIMD Rep. 2020 Oct 1;57(1):9-14. doi: 10.1002/jmd2.12171. eCollection 2021 Jan.
3
Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.
碳酸酐酶 VA 缺乏症:一种非常罕见的高氨血症性脑病病例。
J Pediatr Endocrinol Metab. 2020 Aug 18;33(10):1349-1352. doi: 10.1515/jpem-2020-0117.