(Q24600356)

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

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

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renal tubular acidosis

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based on heuristic

inferred from title

cerebral calcification

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based on heuristic

inferred from title

Michael P. Whyte

3

object named as

M P Whyte

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author name string

W S Sly

1

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D Hewett-Emmett

2

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Y S Yu

4

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R E Tashian

5

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language of work or name

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publication date

May 1983

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Proceedings of the National Academy of Sciences of the United States of America

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80

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9

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2752-6

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Membrane-associated carbonic anhydrase purified from bovine lung

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

7 April 2017

Erythrocyte Carbonic Anhydrase I: Inherited Deficiency in Humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

7 April 2017

Renal carbonic anhydrase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

27 September 2017

Carbonic anhydrase: chemistry, physiology, and inhibition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

27 September 2017

Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

27 September 2017

Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

27 September 2017

Acute response of parathyroid hormone in congenital osteopetrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

27 September 2017

Particulate carbonic anhydrase in homogenates of human kidney

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

27 September 2017

Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

27 September 2017

Microelectrode determination of pH and PCO2 in rat proximal tubule after benzolamide: Evidence for hydrogen ion secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

27 September 2017

Carbonic Anhydrase: Structure, Catalytic Versatility, and Inhibition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

27 September 2017

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

30 May 2018

Dextran-bound inhibitors of carbonic anhydrase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

30 May 2018

Morphological evidence of reduced bone resorption in osteopetrotic (op) mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

30 May 2018

Carbonic anhydrase and bone remodeling: sulfonamide inhibition of bone resorption in organ culture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

30 May 2018

Osteopetrosis in South Africa. The benign, lethal and intermediate forms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

30 May 2018

Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

28 November 2018

Testosterone-induced, sulfonamide-resistant carbonic anhydrase isozyme of rat liver is indistinguishable from skeletal muscle carbonic anhydrase III.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393906

28 November 2018

Carbonic anhydrase and 2', 3' cyclic nucleotide 3'-phosphohydrolase activity in normal human brain and in demyelinating diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human renal cytoplasmic carbonic anhydrase. Tissue levels and kinetic properties under near physiological conditions

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thermodynamics of carbonic anhydrase catalysis. A comparison between human isoenzymes B and C

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of parathyroid hormone and calcitonin on plasma and nephrogenous cyclic adenosine-3',5'-monophosphate in normal subjects and in pathological conditions

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of disequilibrium pH in the rat kidney in vivo: evidence of hydrogen secretion

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunohistochemical localization of carbonic anhydrase isoenzyme C in human brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The p-nitrophenyl phosphatase activity of muscle carbonic anhydrase

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal Tubular Acidosis and Osteopetrosis in Siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The carbon dioxide hydration activity of skeletal muscle carbonic anhydrase. Inhibition by sulfonamides and anions

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunocytochemical demonstration of carbonic anhydrase in human epithelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The importance of carbonic anhydrase B and C for the unloading of CO2 by the human erythrocyte

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[On the biochemistry of the dissolution of bone. 3. On the presence of carbonic anhydrase in bones]

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibition of bone resorption by acetazolamide in the rat

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteopetrosis associated with proximal and distal tubular acidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbonic Anhydrase Inhibitors, Parathyroid Hormone and Calcium Metabolism1

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The relation of choroid plexus carbonic anhydrase activity to cerebrospinal fluid formation: study of three inhibitors in cat with extrapolation to man

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbonic anhydrase and osteoclasts: localization by labeled inhibitor autoradiography

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An improved method for the purification of carbonic anhydrase isozymes by affinity chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The detection and differentiation of the products of the human carbonic anhydrase loci, CAI and CAII using fluorogenic substrates

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibition by anions of human red cell carbonic anhydrase B: physiological and biochemical implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct evaluation of acidification by rat proximal tubule: role of carbonic anhydrase

1 reference

https://pubmed.ncbi.nlm.nih.gov/6405388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.80.9.2752

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1983PNAS...80.2752S

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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