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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification NEJM 313:139-181, Sly,W.S.,et al, 1985 See this aricle in Pubmed Article Abstract No abstract available for this article

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(click to filter results - removes previous filter) basal ganglia,calcification of calcification,intracranial carbonic anhydrase II deficiency CAT scan,abnormal compression fracture cranial nerve palsies enzyme,defect failure to thrive fracture,pathologic genetic neurologic disorders mental retardation metabolic acidosis osteoporosis psychomotor retardation renal tubular acidosis short stature

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