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Last Updated: 10/31/2025

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Found 94 publications

The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.

The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.

Journal: Brain & development
Published: August 08, 2024

Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report.

Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report.

Journal: Pediatric transplantation
Published: December 22, 2023

Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.

Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.

Journal: Global pediatric health
Published: September 28, 2023

Fluconazole-Induced Protein Changes in Osteogenic and Immune Metabolic Pathways of Dental Pulp Mesenchymal Stem Cells of Osteopetrosis Patients.

Fluconazole-Induced Protein Changes in Osteogenic and Immune Metabolic Pathways of Dental Pulp Mesenchymal Stem Cells of Osteopetrosis Patients.

Journal: International journal of molecular sciences
Published: June 27, 2023

Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion.

Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion.

Journal: Intractable & rare diseases research
Published: April 19, 2023

Carbonic anhydrase II deficiency.

Carbonic anhydrase II deficiency.

Journal: Bone
Published: January 02, 2023

Blessing in disguise: when head trauma solves the riddle of carbonic anhydrase II deficiency.

Blessing in disguise: when head trauma solves the riddle of carbonic anhydrase II deficiency.

Journal: Radiology case reports
Published: November 01, 2021

Proteomic Profiling of the First Human Dental Pulp Mesenchymal Stem/Stromal Cells from Carbonic Anhydrase II Deficiency Osteopetrosis Patients.

Proteomic Profiling of the First Human Dental Pulp Mesenchymal Stem/Stromal Cells from Carbonic Anhydrase II Deficiency Osteopetrosis Patients.

Journal: International journal of molecular sciences
Published: December 10, 2020

A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.

A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.

Journal: Metabolic brain disease
Published: November 16, 2020

Marble brain disease: a rare cause of renal tubular acidosis.

Marble brain disease: a rare cause of renal tubular acidosis.

Journal: Journal of nephrology
Published: August 26, 2020

Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.

Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.

Journal: Journal of biomolecular structure & dynamics
Published: September 24, 2019

Mechanism of Action of Non-Synonymous Single Nucleotide Variations Associated with α-Carbonic Anhydrase II Deficiency.

Mechanism of Action of Non-Synonymous Single Nucleotide Variations Associated with α-Carbonic Anhydrase II Deficiency.

Journal: Molecules (Basel, Switzerland)
Published: August 31, 2019
Showing 1-12 of 94

Last Updated: 10/31/2025