Rare Diseases, Common Problems: Recognition and Management
- 1 December 1978
- journal article
- research article
- Published by American Academy of Pediatrics (AAP) in Pediatrics
- Vol. 62 (6) , 1056-1060
- https://doi.org/10.1542/peds.62.6.1056
Abstract
Problems in the recognition and management of inherited metabolic diseases, e.g., galactosemia, maple syrup urine disease, Menkes'' kinky hair syndrome, methylmalonic acidemia and phenylketonuria in infants are discussed. Difficulties in interpreting results of diagnostic screening tests are mentioned and an algorithm for assisting in the diagnosis of inherited diseases is presented.This publication has 0 references indexed in Scilit: