Literature DB >> 16828324

Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.

Walter C Hubbard1, Ann B Moser, Silvia Tortorelli, Anita Liu, David Jones, Hugo Moser.   

Abstract

Utilizing combined liquid chromatography-tandem mass spectrometry (LC-MS/MS) as the analytical method, we have demonstrated a ten to sixtyfold excess of lysophosphatidyl choline containing hexacosanoic acid (26:0) in dried blood spots on a filter paper matrix from 25 male patients with X-linked adrenoleukodystrophy and nine patients with peroxisome biogenesis disorders compared to 19 controls. There was no overlap between normal subjects versus affected subjects.

Entities:  

Mesh:

Substances:

Year:  2006        PMID: 16828324     DOI: 10.1016/j.ymgme.2006.05.001

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  36 in total

1.  Expanded newborn screening in Europe 2007.

Authors:  O A Bodamer; G F Hoffmann; M Lindner
Journal:  J Inherit Metab Dis       Date:  2007-07-23       Impact factor: 4.982

2.  In response to 'Newborn screening in North America' (Therrell and Adams (2007) J Inherit Metab Dis 30:447-465).

Authors:  H Vallance; S Sirrs; F Bamforth; S Stockler-Ipsiroglu
Journal:  J Inherit Metab Dis       Date:  2008-10-16       Impact factor: 4.982

Review 3.  Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.

Authors:  Inderjit Singh; Aurora Pujol
Journal:  Brain Pathol       Date:  2010-07       Impact factor: 6.508

4.  The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

Authors:  Shandi Hiebler; Tomohiro Masuda; Joseph G Hacia; Ann B Moser; Phyllis L Faust; Anita Liu; Nivedita Chowdhury; Ning Huang; Amanda Lauer; Jean Bennett; Paul A Watkins; Donald J Zack; Nancy E Braverman; Gerald V Raymond; Steven J Steinberg
Journal:  Mol Genet Metab       Date:  2014-01-23       Impact factor: 4.797

5.  Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.

Authors:  David Cheillan
Journal:  Adv Exp Med Biol       Date:  2020       Impact factor: 2.622

6.  Pharmacological Complementation Remedies an Inborn Error of Lipid Metabolism.

Authors:  Meredith D Hartley; Mitra D Shokat; Margaret J DeBell; Tania Banerji; Lisa L Kirkemo; Thomas S Scanlan
Journal:  Cell Chem Biol       Date:  2020-03-12       Impact factor: 8.116

7.  Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening.

Authors:  Christopher A Haynes; Víctor R De Jesús
Journal:  Clin Biochem       Date:  2015-10-01       Impact factor: 3.281

Review 8.  Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Authors:  Dietrich Matern; Devin Oglesbee; Silvia Tortorelli
Journal:  Dev Disabil Res Rev       Date:  2013

Review 9.  Newborn screening for adrenoleukodystrophy: implications for therapy.

Authors:  Gerald V Raymond; Richard O Jones; Ann B Moser
Journal:  Mol Diagn Ther       Date:  2007       Impact factor: 4.074

10.  Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders.

Authors:  M Gartz Hanson; Veronica L Fregoso; Justin D Vrana; Chandra L Tucker; Lee A Niswander
Journal:  Dev Biol       Date:  2014-08-28       Impact factor: 3.582

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.