TY - CHAP
T1 - Peroxisomal diseases
AU - Wanders, Ronald J. A.
PY - 2016
Y1 - 2016
N2 - Peroxisomal diseases are a group of genetically and clinically divergent diseases due to defects in either the biogenesis of peroxisomes (group 1) or one of its metabolic functions (group 2). Zellweger syndrome and X-linked adrenoleukodystrophy (XALD) are the prototypes for group 1 and 2, respectively. Due to the increased knowledge about peroxisomes the laboratory diagnosis of patients has been firmly established in recent years. Much less progress, however, has been made with respect to treatment options which are limited to X-ALD (hematopoietic cell transplantation/gene therapy) and Refsum disease (diet).
AB - Peroxisomal diseases are a group of genetically and clinically divergent diseases due to defects in either the biogenesis of peroxisomes (group 1) or one of its metabolic functions (group 2). Zellweger syndrome and X-linked adrenoleukodystrophy (XALD) are the prototypes for group 1 and 2, respectively. Due to the increased knowledge about peroxisomes the laboratory diagnosis of patients has been firmly established in recent years. Much less progress, however, has been made with respect to treatment options which are limited to X-ALD (hematopoietic cell transplantation/gene therapy) and Refsum disease (diet).
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85079569408&origin=inward
U2 - https://doi.org/10.1016/B978-0-12-809324-5.04561-2
DO - https://doi.org/10.1016/B978-0-12-809324-5.04561-2
M3 - Chapter
T3 - The Curated Reference Collection in Neuroscience and Biobehavioral Psychology
SP - 869
EP - 872
BT - The Curated Reference Collection in Neuroscience and Biobehavioral Psychology
PB - Elsevier Science Ltd
ER -