Newborn Screening for X-Linked Adrenoleukodystrophy

Newborn Screening for X-Linked Adrenoleukodystrophy

Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article describes X-ALD, the current therapies, the h...

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Bibliographic Details
Main Authors: Ann B. Moser, Richard O. Jones, Walter C. Hubbard, Silvia Tortorelli, Joseph J. Orsini, Michele Caggana, Beth H. Vogel, Gerald V. Raymond
Format: Article
Language:English
Published: MDPI AG 2016-12-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
X-linked adrenoleukodystrophy
adrenal insufficiency
hematopoietic cell transplantation
C26:0 lysophosphatidyl choline
dried blood spot
tandem mass spectrometry (LC-MS/MS)
peroxisomal disorders
Online Access:http://www.mdpi.com/2409-515X/2/4/15

Internet

http://www.mdpi.com/2409-515X/2/4/15

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