Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

Poll-The, Bwee Tien

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