Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. [electronic resource]
- American journal of medical genetics. Part A May 2004
- 333-8 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1552-4825
10.1002/ajmg.a.20664 doi
ATPases Associated with Diverse Cellular Activities Adolescent Adult Child Child, Preschool Cohort Studies Developmental Disabilities--pathology Eye Diseases--pathology Face--abnormalities Female Follow-Up Studies Growth Disorders--pathology Humans Infant Kidney--pathology Liver--pathology Male Membrane Proteins--genetics Mutation Peroxisomal Disorders--genetics Phenotype Seizures--pathology Spleen--pathology Survival Rate Time Factors