Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.

Sandlers, Yana; Moser, Ann B; Hubbard, Walter C; Kratz, Lisa E; Jones, Richard O; Raymond, Gerald V

Sandlers, Yana; Moser, Ann B; Hubbard, Walter C; Kratz, Lisa E; Jones, Richard O; Raymond, Gerald V.

Affiliation

Sandlers Y; Department of Pediatrics at Johns Hopkins University, Baltimore, MD 21205, USA. sandlers@kennedykrieger.org

Mol Genet Metab ; 105(3): 416-20, 2012 Mar.

Article in En | MEDLINE | ID: mdl-22197596

Subject(s)

Adrenoleukodystrophy/diagnosis; Carnitine/analogs & derivatives; Dried Blood Spot Testing; Lysophosphatidylcholines/blood; Neonatal Screening/methods; Adrenoleukodystrophy/blood; Adrenoleukodystrophy/genetics; Carnitine/blood; Chromatography, Liquid/methods; Humans; Infant, Newborn; Mass Spectrometry; Molecular Diagnostic Techniques; Peroxisomal Disorders/diagnosis; Peroxisomal Disorders/genetics; Peroxisomes/genetics; Peroxisomes/metabolism

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Full text: 1 Database: MEDLINE Main subject: Lysophosphatidylcholines / Carnitine / Neonatal Screening / Adrenoleukodystrophy / Dried Blood Spot Testing Type of study: Diagnostic_studies / Screening_studies Language: En Journal: Mol Genet Metab Year: 2012 Type: Article Affiliation country: United States

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