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

This publication has 20 references indexed in Scilit:

• Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy
  Molecular Genetics and Metabolism, 2012
• X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
  Orphanet Journal of Rare Diseases, 2012
• Biochemical Aspects of X‐Linked Adrenoleukodystrophy
  Brain Pathology, 2010
• The role of ELOVL1 in very long‐chain fatty acid homeostasis and X‐linked adrenoleukodystrophy
  EMBO Molecular Medicine, 2010
• Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method
  Molecular Genetics and Metabolism, 2009
• The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl–CoA esters
  The FASEB Journal, 2008
• Combined liquid chromatography–Tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: Preliminary findings
  Molecular Genetics and Metabolism, 2006
• Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999
  Blood, 2004
• Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
  Nature, 1993
• Adrenoleukodystrophy: Evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin
  Biochemical and Biophysical Research Communications, 1980