[From gene to disease; X-linked adrenoleukodystrophy]

Autor:	M, Engelen, S, Kemp, B M, van Geel
Jazyk:	Dutch; Flemish
Rok vydání:	2008
Předmět:	Fatty Acids Peroxisomes Humans Genetic Diseases X-Linked Lipid Peroxidation Adrenoleukodystrophy Oxidation-Reduction
Zdroj:	Nederlands tijdschrift voor geneeskunde. 152(14)
ISSN:	0028-2162
Popis:	X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, characterized by impaired peroxisomal beta-oxidation, subsequent accumulation of very long-chain fatty acids (22 carbon atoms), and mutations in the ABCD1 gene. Clinical manifestations, diagnostic procedures and treatment options are discussed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::a3387c22252ebb6e02bc3123db1132fb https://pubmed.ncbi.nlm.nih.gov/18491823 Zobrazit plný text záznamu