… as CAII deficiency syndrome, marble brain disease or Guibaud–Vainsel syndrome. Osteopetrosis
… in the case of patients with CAII deficiency syndrome. According to Hillstorm 103 CAII …

… The impact of this CA isozyme in the human body is best exemplified by CA II deficiency
syndrome, a human autosomal recessive disorder characterized by osteopetrosis, renal tubular …

… Most patients with the CAII deficient syndrome have both proximal and distal renal tubular
acidosis, but there is clinical heterogeneity, some have predominantly proximal RTA while in …

… The underlying cause in each of these children was deficiency of carbonic anhydrase VA
(CA-VA) (CA5A [MIM 114671]), an inborn error of metabolism broadening the differential …

… Carbonic anhydrases are a group of isoenzymes that catalyze … Carbonic anhydrase may
be also involved in bile and kidney … association between carbonic anhydrase isoenzymes and …

… The deficiency of carbonic anhydrase II causes a moderate form, presenting classically as
a triad of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. This condition …

… have demonstrated a deficiency of carbonic anhydrase II as the basic defect in the syndrome
of … patients are void of carbonic anhydrase isozyme II and contain types I and III isozymes. …

… CA II deficiency syndrome is otherwise known as marble brain disease or Guibaud-Vainsel
syndrome which is a rare autosomal recessive inborn error of metabolism, classically …

… An important finding from studies on the human CA 11-deficiency syndrome was that the
osteopetrosis produced by a reduction in bone demineralization confirmed that the CA I1 …

… carbonic anhydrase (CA) IV in the proximal convoluted tubule (PCT). This study was
designed to assess CA IV expression in a model of CMA in the mouse, ie, congenital …