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
Progressive Infantile Poliodystrophy, Assoc. With Disturbed Pyruvate Oxidation in Muscle & Liver
Arch Neurol 38:767-772, Prick,M.J.J.,et al, 1981