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
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Familial Hypopituitarism with Large Sella Turcica
NEJM 298:698, Parks,J.S.,et al, 1978
Chronic Hydrocephalus Associated with Short Stature & Growth Hormone Deficiency
Ann Neurol 2:246, Hier,D.B.,et al, 1977