The authors present a case of osteopetrosis due to carbonic anhydrase II deficiency. Clinical, laboratory and radiologic findings are reported. The genetics of osteopetrosis are reviewed.

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.mph.0000154068.86987.47DOI Listing

Publication Analysis

Top Keywords

carbonic anhydrase
8
anhydrase deficiency
8
deficiency rare
4
rare autosomal
4
autosomal recessive
4
recessive disorder
4
disorder osteopetrosis
4
osteopetrosis renal
4
renal tubular
4
tubular acidosis
4

Similar Publications

Objective: Triple negative breast carcinoma (TNBC) is characterized by the absence of estrogen receptor, progesterone receptor and human epidermal growth factor receptor-2 receptor expression. Carbonic anhydrase IX (CA IX) is a tumor-associated cell surface glycoprotein that is involved in adaptation to hypoxia-induced acidosis and plays a role in cancer progression. The aim of this study was to investigate CA IX expression in TNBC and its relationship with treatment effect.

View Article and Find Full Text PDF

Mass Transfer-Reaction Modeling of CO Capture Mediated by Immobilized Carbonic Anhydrase Enzyme on Multiscale Supporting Structures.

Environ Sci Technol

January 2025

Zhejiang Key Laboratory of Clean Energy Conversion and Utilization, Science and Education Integration College of Energy and Carbon Neutralization, Zhejiang University of Technology, Hangzhou 310014, China.

Article Synopsis
  • Immobilized carbonic anhydrase (CA) enhances CO absorption in potassium carbonate (PC) solutions, presenting a viable alternative to traditional amine-based carbon capture methods.
  • The study developed cross-scale models to assess how different enzyme immobilization materials—ranging from nanoparticle to macro-scale carriers—affect CO absorption rates, finding that nanoscale carriers are most effective.
  • While increasing enzyme activity can boost absorption rates, diffusion limits, particularly in the liquid phase, impose an upper limit to this enhancement, and smaller particle sizes below 0.35 μm significantly improve performance over benchmark solutions.
View Article and Find Full Text PDF

Duplicated carbonic anhydrase was a member of carbonic anhydrase family. The ubiquitous carbonic anhydrase (CA) plays important roles in plants. However, the role of CA in Dunaliella parva remains to be further explored.

View Article and Find Full Text PDF

Purpose: To compare the efficacy of intravitreal antivascular endothelial growth factor (anti-VEGF) agents with oral carbonic anhydrase inhibitors (CAIs) in treating cystoid macular edema (CME) secondary to retinitis pigmentosa (RP).

Methods: This retrospective study analyzed 98 patients (98 eyes) with RP-CME: 47 (48.0%) received intravitreal anti-VEGF agents (Ranibizumab or Bevacizumab) and 51 (52.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!