Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency.

Cohen, L H

Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency. [electronic resource] - European journal of pediatrics Dec 1997 - 935-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0340-6199

10.1007/s004310050746 doi


Brain Diseases--enzymology
Consanguinity
Endocrine System Diseases--enzymology
Female
Growth Disorders--enzymology
Humans
Infant
Metabolism, Inborn Errors--enzymology
Phenotype
Pyroglutamate Hydrolase--deficiency
Syndrome