Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy

Main|Search|PHGKB


Last Posted: Jun 29, 2018

---

• Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy  
  AB Moser et al, JAMA Neurology, June 25, 2018
• Updates in Newborn Screening.  
  Rajabi Farrah et al. Pediatric annals 2018 May 47(5) e187-e190
• Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.  
  Hong Xinying et al. Molecular genetics and metabolism 2018 Mar
• Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy.  
  Engelen Marc et al. The New England journal of medicine 2017 Oct (17) 1682-1684
• Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.  
  Eichler Florian et al. The New England journal of medicine 2017 Oct
• Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.  
  Kemper Alex R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun
• Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation  
  AR Kemper et al, Genetics in Medicine, June 23, 2016
• Challenges for Worldwide Harmonization of Newborn Screening Programs.  
  Martínez-Morillo Eduardo et al. Clinical chemistry 2016 Mar
• Advisory Committee on Heritable Disorders in Newborns and Children. Secretarial Responses Regarding the Committee's Recommendations to add Adrenoleukodystrophy (X-ALD)[PDF 137 KB]  
• Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening.  
  Haynes Christopher A et al. Clinical biochemistry 2015 Oct

more