PubMed (Bookshelf cited) for id: 816734

Year	Number of Results
1995	1
2013	2
2014	1
2016	1
2017	2
2020	2
2021	1
2023	0

1

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

Marwaha A, Ibrahim J, Rice T, Hamwi N, Rupar CA, Cresswell D, Prasad C, Schulze A. Marwaha A, et al. JIMD Rep. 2020 Oct 1;57(1):9-14. doi: 10.1002/jmd2.12171. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473334 Free PMC article.

2

Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

Olgac A, Kasapkara CS, Kilic M, Keskin EY, Sandal G, Cram DS, Haberle J, Torun D. Olgac A, et al. J Pediatr Endocrinol Metab. 2020 Aug 18;33(10):1349-1352. doi: 10.1515/jpem-2020-0117. J Pediatr Endocrinol Metab. 2020. PMID: 32809955 Free article.

3

Parental influence on human germline de novo mutations in 1,548 trios from Iceland.

Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963

4

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2017 Jun;136(6):665-677. doi: 10.1007/s00439-017-1779-6. Epub 2017 Mar 27. Hum Genet. 2017. PMID: 28349240 Free PMC article. Review.

5

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

Diez-Fernandez C, Rüfenacht V, Santra S, Lund AM, Santer R, Lindner M, Tangeraas T, Unsinn C, de Lonlay P, Burlina A, van Karnebeek CD, Häberle J. Diez-Fernandez C, et al. Genet Med. 2016 Oct;18(10):991-1000. doi: 10.1038/gim.2015.201. Epub 2016 Feb 25. Genet Med. 2016. PMID: 26913920 Free article.

6

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S. van Karnebeek CD, et al. Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530203 Free PMC article.

7

Clinical and biochemical aspects of primary and secondary hyperammonemic disorders.

Häberle J. Häberle J. Arch Biochem Biophys. 2013 Aug 15;536(2):101-8. doi: 10.1016/j.abb.2013.04.009. Epub 2013 Apr 27. Arch Biochem Biophys. 2013. PMID: 23628343 Review.

8

Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism.

Shah GN, Rubbelke TS, Hendin J, Nguyen H, Waheed A, Shoemaker JD, Sly WS. Shah GN, et al. Proc Natl Acad Sci U S A. 2013 Apr 30;110(18):7423-8. doi: 10.1073/pnas.1305805110. Epub 2013 Apr 15. Proc Natl Acad Sci U S A. 2013. PMID: 23589845 Free PMC article.

9

Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p.

Nagao Y, Batanian JR, Clemente MF, Sly WS. Nagao Y, et al. Genomics. 1995 Aug 10;28(3):477-84. doi: 10.1006/geno.1995.1177. Genomics. 1995. PMID: 7490083

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

9 results

Results by year