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Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.
Theda, Christiane; Gibbons, Katy; Defor, Todd E; Donohue, Pamela K; Golden, W Christopher; Kline, Antonie D; Gulamali-Majid, Fizza; Panny, Susan R; Hubbard, Walter C; Jones, Richard O; Liu, Anita K; Moser, Ann B; Raymond, Gerald V.
Afiliación
  • Theda C; Royal Women's Hospital, Neonatal Services, 20 Flemington Road, Parkville VIC 3052, Australia; The University of Melbourne and the Murdoch Childrens Research Institute, Melbourne, Australia; Frederick Memorial Hospital, 400 W 7th Street, Frederick, MD 21701, USA; Department of Pediatrics, Johns Hopki
  • Gibbons K; Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.
  • Defor TE; Department of Biostatistics and Informatics Core, University of Minnesota Medical School, 420 Delaware Street, SE, Minneapolis, MN 55455, USA.
  • Donohue PK; Department of Pediatrics, Johns Hopkins University School of Medicine, Johns Hopkins Children's Center, 1800 Orleans Street, Baltimore, MD 21287, USA; Population, Family and Reproductive Health, Johns Hopkins Bloomberg School of Public Health, 615 N Wolfe Street, Baltimore, MD 21205, USA.
  • Golden WC; Department of Pediatrics, Johns Hopkins University School of Medicine, Johns Hopkins Children's Center, 1800 Orleans Street, Baltimore, MD 21287, USA.
  • Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, 6701 N Charles Street, Baltimore, MD 21204, USA.
  • Gulamali-Majid F; Maryland Department of Health and Mental Hygiene, 201 W Preston Street, Room 1A6, Baltimore, MD 21201, USA.
  • Panny SR; Maryland Department of Health and Mental Hygiene, 201 W Preston Street, Room 1A6, Baltimore, MD 21201, USA.
  • Hubbard WC; Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, Osler 527, 600 N Wolfe Street, Baltimore, MD 21287, USA.
  • Jones RO; Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.
  • Liu AK; Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.
  • Moser AB; Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.
  • Raymond GV; Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA; University of Minnesota, 12-150 Phillips Wangensteen Building, MMC-295, 516 Delaware Street, SE, Minneapolis, MN 55455, USA.
Mol Genet Metab ; 111(1): 55-7, 2014 Jan.
Article en En | MEDLINE | ID: mdl-24268529
ABSTRACT
X-linked adrenoleukodystrophy (ALD) is characterized by adrenal insufficiency and neurologic involvement with onset at variable ages. Plasma very long chain fatty acids are elevated in ALD; even in asymptomatic patients. We demonstrated previously that liquid chromatography tandem mass spectrometry measuring C260 lysophosphatidylcholine reliably identifies affected males. We prospectively applied this method to 4689 newborn blood spot samples; no false positives were observed. We show that high throughput neonatal screening for ALD is methodologically feasible.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Lisofosfatidilcolinas / Tamizaje Neonatal / Adrenoleucodistrofia Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Newborn Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Lisofosfatidilcolinas / Tamizaje Neonatal / Adrenoleucodistrofia Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Newborn Idioma: En Año: 2014 Tipo del documento: Article