(Q37634124)

21 August 2017

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood (English)

1 reference

21 August 2017

1 reference

7

Casper Shyr

0 references

Amit P. Bhavsar

Amit P Bhavsar

22

0 references

Anna Lehman

Anna M Lehman

10

0 references

Graham Sinclair

Graham Sinclair

23

0 references

Hilary Vallance

Hilary D Vallance

18

0 references

Colin J. Ross

Colin J Ross

3

0 references

Wyeth Wasserman

Wyeth W Wasserman

25

0 references

Gabriella A Horvath

Gabriella A Horvath

8

0 references

Marion Coulter-Mackie

Marion Coulter-Mackie

Sylvia Stockler-Ipsiroglu

19

0 references

26

Sylvia Stockler-Ipsiroglu

1 reference

21 August 2017

5

Joy Yaplito-Lee

1 reference

21 August 2017

Clara D van Karnebeek

1

1 reference

21 August 2017

William S Sly

2

1 reference

21 August 2017

Ramona Salvarinova

4

1 reference

21 August 2017

Saikat Santra

6

1 reference

21 August 2017

Casper Shyr

7

1 reference

21 August 2017

Patrice Eydoux

9

1 reference

21 August 2017

Virginie Bernard

11

1 reference

21 August 2017

Theresa Newlove

12

1 reference

21 August 2017

Henry Ukpeh

13

1 reference

21 August 2017

Anupam Chakrapani

14

1 reference

21 August 2017

Mary Anne Preece

15

1 reference

21 August 2017

Sarah Ball

16

1 reference

21 August 2017

James Pitt

17

1 reference

21 August 2017

Hien Nguyen

20

1 reference

21 August 2017

Lin-Hua Zhang

21

1 reference

21 August 2017

Abdul Waheed

24

1 reference

21 August 2017

language of work or name

English

0 references

publication date

13 February 2014

1 reference

American Journal of Human Genetics

21 August 2017

1 reference

21 August 2017

94

1 reference

21 August 2017

453-461

1 reference

21 August 2017

3

1 reference

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

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

PINK1 rendered temperature sensitive by disease-associated and engineered mutations.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Structure and function of biotin-dependent carboxylases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Mutations in the holocarboxylase synthetase gene HLCS.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Mitochondrial carbonic anhydrase CA VB: differences in tissue distribution and pattern of evolution from those of CA VA suggest distinct physiological roles

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Isoforms of acetyl-CoA carboxylase: structures, regulatory properties and metabolic functions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

The role of glycosylation and phosphorylation in the expression of active human beta-glucuronidase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Mitochondrial carbonic anhydrase (isozyme V) in mouse and rat: cDNA cloning, expression, subcellular localization, processing, and tissue distribution

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Human carbonic anhydrases and carbonic anhydrase deficiencies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Clinical and biochemical aspects of primary and secondary hyperammonemic disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

New developments in the treatment of hyperammonemia: emerging use of carglumic acid.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Carbonic anhydrase XIV identified as the membrane CA in mouse retina: strong expression in Müller cells and the RPE.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951944

The role of carbonic anhydrase in hepatocyte metabolism

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24530203

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Determinants of catalytic activity and stability of carbonic anhydrase II as revealed by random mutagenesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24530203

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.01.006

1 reference

21 August 2017

1 reference

21 August 2017

1 reference