(Q35200717)

7 August 2017

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

1 reference

7 August 2017

V Sundaram

1

1 reference

7 August 2017

P Rumbolo

2

1 reference

7 August 2017

J Grubb

3

1 reference

7 August 2017

P Strisciuglio

4

1 reference

7 August 2017

W S Sly

5

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 February 1986

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

38

1 reference

7 August 2017

125-136

1 reference

7 August 2017

2

1 reference

Membrane-associated carbonic anhydrase purified from bovine lung

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684750

Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684750

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684750

Carbonic anhydrase: chemistry, physiology, and inhibition

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684750

Genetic variation in the carbonic anhydrase isozymes of macaque monkeys. II. Inheritance of red cell carbonic anhydrase levels in different carbonic anhydrase I genotypes of the pig-tailed macaque, Macaca nemestrina

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684750

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684750

The nature of anion inhibition of human red cell carbonic anhydrases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684750

Erythrocyte Carbonic Anhydrase I: Inherited Deficiency in Humans

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684750

Particulate carbonic anhydrase in homogenates of human kidney

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684750

Kinetics and inhibition of membrane-bound carbonic anhydrase from canine renal cortex.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684750

A simplified micromethod for the determination of carbonic anhydrase and its inhibitors

26 September 2018

1 reference

12 December 2020

The value of inherited deficiencies of human carbonic anhydrase isozymes in understanding their cellular roles

1 reference

12 December 2020

Organization of the Mouse and Human Carbonic Anhydrase II Genesa

1 reference

12 December 2020

Inactivation of human erythrocyte carbonic anhydrases by bromopyruvate

1 reference

12 December 2020

Red cells genetically deficient in carbonic anhydrase II have elevated levels of a carbonic anhydrase indistinguishable from muscle CA III

1 reference

12 December 2020

Radioimmunoassay of human muscle carbonic anhydrase III in dystrophic states

1 reference

12 December 2020

Effect of metabolic acidosis on hydrogen ion excretion in a pigtail macaque with erythrocyte carbonic anhydrase I deficiency

1 reference

12 December 2020

[Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship]

1 reference

12 December 2020

On the evolution and genetics of carbonic anhydrases I, II, and III

1 reference

12 December 2020

Osteopetrosis associated with proximal and distal tubular acidosis

1 reference

12 December 2020

Identifiers

PMCID

1684750

1 reference

7 August 2017

1 reference