Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease that results in the accumulation of very long chain fatty acids (VLCFA) in plasma and all tissues. Recent studies regarding cerebral X-ALD (CALD) treatment emphasize the importance of its early diagnosis. 26:0 lysophosphatid...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Wu, Chen, Iwamoto, Takeo, Igarashi, Junko, Miyajima, Takashi, Hossain, Mohammad Arif, Yanagisawa, Hiroko, Akiyama, Keiko, Shintaku, Haruo, Eto, Yoshikatsu
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5506878/
https://ncbi.nlm.nih.gov/pubmed/28725571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.06.004
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados