The neurology of carbonic anhydrase type II deficiency syndrome

TM Bosley, MA Salih, IA Alorainy, MZ Islam… - Brain, 2011 - academic.oup.com
Carbonic anhydrase type II deficiency syndrome is an … families with carbonic anhydrase
type II deficiency syndrome due to … in carbonic anhydrase type II deficiency syndrome during …

Molecular basis of human carbonic anhydrase II deficiency.

DE Roth, PJ Venta, RE Tashian… - Proceedings of the …, 1992 - National Acad Sciences
… primary defect in the syndrome of osteopetrosis, … carbonic anhydrase II deficiency in the
American family in which the association of carbonic anhydrase H deficiency with this syndrome

[HTML][HTML] Carbonic anhydrase VA deficiency

C van Karnebeek, J Häberle - 2021 - europepmc.org
… : Acetazolamide as it inhibits carbonic anhydrase activity. If anti-seizure medications are
necessary, avoid topiramate based on its action as carbonic anhydrase inhibitor. Evaluation of …

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

WS Sly, D Hewett-Emmett, MP Whyte… - Proceedings of the …, 1983 - National Acad Sciences
… this disorder, we postulated a defect in carbonic anhydrase H (CA II), the only one of the
three soluble isozymes of carbonic anhydrase that is.known to be synthesized in kidney and …

Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome

C McMahon, A Will, P Hu, GN Shah… - Blood, The Journal …, 2001 - ashpublications.org
Carbonic anhydrase II (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-base
homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of …

Carbonic anhydrase II deficiency: report of a novel mutation

A Alsharidi, M Al-Hamed, A Alsuwaida - CEN case reports, 2016 - Springer
carbonic anhydrase II deficiency with recurrent attacks of acute paralysis, which was
misdiagnosed initially as Guillain-Barré syndrome … with carbonic anhydrase II deficiency syndrome

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

WS Sly, MP Whyte, V Sundaram… - … England Journal of …, 1985 - Mass Medical Soc
… However, nothing is yet known of the nature of the molecular genetic defect in any of the
patients with the carbonic anhydrase II—deficiency syndrome. All patients described so far have …

Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification

A Ohlsson, WA Cumming, A Paul, WS Sly - Pediatrics, 1986 - publications.aap.org
carbonic anhydrase II deficiency syndrome from two families are described. This autosomal
recessive syndrome … to be affected with this syndrome. Intrauterine growth was normal, but …

Carbonic anhydrase II deficiency

MP Whyte - Bone, 2023 - Elsevier
… calcification syndrome”, reveals an important role for the enzyme carbonic anhydrase II (CA
II… Discovered in 1972 and subsequently given various names, CA II deficiency now describes …

[引用][C] Carbonic anhydrase deficiency with persistence of foetal haemoglobin: A new syndrome

LI Luan Eng, R TARAIL - Nature, 1966 - nature.com
… is no carbonic anhydrase deficiency**. We now report on a syndrome in a 47-year-old
Greek male, whose pattern of synthesis of haemoglobin and erythrocytic carbonic anhydrase