Journal ArticleDOI
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry.
Fredoen Valianpour,Jacqueline J.M Selhorst,Lia E.M van Lint,Albert H. van Gennip,Ronald J.A. Wanders,Stephan Kemp +5 more
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TLDR
A rapid and easy method using electrospray ionization mass spectrometry (ESI-MS) with deuterated internal standards to determine elevated levels of very long-chain fatty acids in plasma and fibroblasts of patients with X-ALD.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 2003-07-01. It has received 139 citations till now. The article focuses on the topics: Electrospray ionization.read more
Citations
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Journal ArticleDOI
X-linked adrenoleukodystrophy.
TL;DR: A promising new method for mass newborn screening has been developed, the implementation of which will have a profound effect on the diagnosis and therapy of X-ALD.
Journal ArticleDOI
Mass spectrometry in metabolome analysis
TL;DR: This review is mainly focused on the status of MS in the metabolome field, trying to direct the reader to the main approaches for analysis of metabolites, reviewing basic methodologies in sample preparation, and the most recent MS techniques introduced.
Journal ArticleDOI
Lipid oxidation and peroxidation in CNS health and disease: from molecular mechanisms to therapeutic opportunities.
TL;DR: The role of lipid oxidation/peroxidation in various CNS injuries/disorders is discussed and may be of particular importance for these CNS injuries and disorders.
Journal ArticleDOI
Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history
TL;DR: Current knowledge on the clinical presentation, diagnosis and treatment of X-Linked adrenoleukodystrophy is described, and gaps in the knowledge of the natural history of the disease are highlighted owing to an absence of large-scale prospective cohort studies.
Journal ArticleDOI
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study
Marc Engelen,Mathieu Barbier,Inge M. E. Dijkstra,Remmelt Schür,Rob M.A. de Bie,Camiel Verhamme,Marcel G. W. Dijkgraaf,Patrick Aubourg,Ronald J.A. Wanders,Björn M. van Geel,Marianne de Visser,Stephan Kemp +11 more
TL;DR: X-linked adrenoleukodystrophy carriers develop an adrenomyeloneuropathy-like phenotype and there is a strong association between symptomatic status and age, and ABCD1 mutation analysis deserves a place in diagnostic protocols for chronic non-compressive myelopathy.
References
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Book
The Metabolic and Molecular Bases of Inherited Disease
TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
Journal ArticleDOI
X-linked adrenoleukodystrophy.
TL;DR: A promising new method for mass newborn screening has been developed, the implementation of which will have a profound effect on the diagnosis and therapy of X-ALD.
Journal ArticleDOI
Adrenoleukodystrophy Increased plasma content of saturated very long chain fatty acids
Hugo W. Moser,Hugo W. Moser,Ann B. Moser,Karen K. Frayer,Winston W. Chen,Joseph D. Schulman,Brian P. O'Neill,Yasuo Kishimoto +7 more
TL;DR: With a new method, saturated very long chain fatty acids in the plasma of adrenoleukodystrophy (ALD) hemizygotes, ALD heterozygotes, and controls are measured, showing increased levels of hexacosanoate (C26 fatty acid) which represented 0.081 ± 0.0066% of total fatty acids.
Journal ArticleDOI
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
Ann B. Moser,Nancy Kreiter,Lena Bezman,Shou En Lu,Gerald V. Raymond,Sakkubai Naidu,Hugo W. Moser,Hugo W. Moser +7 more
TL;DR: VLCFA levels were increased in all patients homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and in patients with deficiencies of peroxisomal acyl‐coenzyme A oxidase, bifunctional enzyme, and 3‐oxoacyl‐coENzyme A thiolase.
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Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Lena Bezman,Ann B. Moser,Gerald V. Raymond,Piero Rinaldo,Paul A. Watkins,Kirby D. Smith,Nancy E. Kass,Hugo W. Moser +7 more
TL;DR: Diagnostic tests should be offered to all at‐risk relatives of X‐ALD patients and should include members of the extended family, because identification of heterozygotes provides the opportunity for disease prevention through genetic counseling.