Recurrent hyperammonaemia in a patient with carbonic anhydrase <scp>VA</scp> deficiency-Reference-Cited by-同舟云学术

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Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency

Published:2022-08-10 Issue:6 Volume:63 Page:536-539
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Stockdale Christopher¹,Bowron Ann¹^ORCID,Appleton Marie¹,Richardson Ruth²,Anderson Mark³

Affiliation:

1. Department of Blood Sciences Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

2. Northern Genetics Service Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

3. Great North Children's Hospital Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12322

Reference7 articles.

1. Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

2. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

3. Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia

4. Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis

5. Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency;JIMD Reports;2024-05-08

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