JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.3, pp.437-441, 2020 (SCI-Expanded)
Article / Article
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
Bursa Uludag University Affiliated:
Background: Peroxisomal biogenesis disorders (PBDs) include a miscellaneous group of diseases which cause serious multisystem disease. Mutations of 13 different PEX genes lead to PBDs including Zellweger syndrome (ZS). Different types of mutations of PEX1 and PEX10 genes are correlated with broad-range phenotypes of PBDs.