TY  - GEN
AU  - Poll-The,Bwee Tien
AU  - Gootjes,Jeannette
AU  - Duran,Marinus
AU  - De Klerk,Johannis B C
AU  - Wenniger-Prick,Liesbeth J Maillette de Buy
AU  - Admiraal,Ronald J C
AU  - Waterham,Hans R
AU  - Wanders,Ronald J A
AU  - Barth,Peter G
TI  - Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
SN  - 1552-4825
PY  - 2004///1019
KW  - ATPases Associated with Diverse Cellular Activities
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Cohort Studies
KW  - Developmental Disabilities
KW  - pathology
KW  - Eye Diseases
KW  - Face
KW  - abnormalities
KW  - Female
KW  - Follow-Up Studies
KW  - Growth Disorders
KW  - Humans
KW  - Infant
KW  - Kidney
KW  - Liver
KW  - Male
KW  - Membrane Proteins
KW  - genetics
KW  - Mutation
KW  - Peroxisomal Disorders
KW  - Phenotype
KW  - Seizures
KW  - Spleen
KW  - Survival Rate
KW  - Time Factors
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.20664
ER  -