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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Metab Rep
Prif Awduron: Wu, Chen, Iwamoto, Takeo, Igarashi, Junko, Miyajima, Takashi, Hossain, Mohammad Arif, Yanagisawa, Hiroko, Akiyama, Keiko, Shintaku, Haruo, Eto, Yoshikatsu
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2017
Pynciau:
Research Paper
Mynediad Ar-lein: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
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