Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume 17, Issue 12, Pages 989-994
Publisher
Springer Nature
Online
2015-04-02
DOI
10.1038/gim.2015.22
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening
- (2014) J. Lawrence Merritt et al. MOLECULAR GENETICS AND METABOLISM
- ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies
- (2013) Jessica Nouws et al. HUMAN MOLECULAR GENETICS
- Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data
- (2013) Julien Baruteau et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency
- (2013) Manuel Schiff et al. MOLECULAR GENETICS AND METABOLISM
- Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder
- (2013) Kevin Berendse et al. Orphanet Journal of Rare Diseases
- Newborn Screening: Gaps in the Evidence
- (2013) B. Wilcken SCIENCE
- Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result
- (2012) J. Gerard Loeber et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: Evaluation by in vitro probe acylcarnitine assay
- (2012) Seiji Yamaguchi et al. MOLECULAR GENETICS AND METABOLISM
- Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts
- (2011) J. Bastin et al. HUMAN MOLECULAR GENETICS
- VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment
- (2011) Lars Hoffmann et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling
- (2010) Sara Violante et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting
- (2010) Martin Lindner et al. JOURNAL OF INHERITED METABOLIC DISEASE
- The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
- (2010) Ronald J. A. Wanders et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Update on mitochondrial fatty acid oxidation disorders
- (2010) Ute Spiekerkoetter et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Mitochondrial long chain fatty acid β-oxidation in man and mouse
- (2009) Malika Chegary et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
- (2009) Georgianne L. Arnold et al. MOLECULAR GENETICS AND METABOLISM
- Characterization of l-aminocarnitine, an inhibitor of fatty acid oxidation
- (2008) Malika Chegary et al. MOLECULAR GENETICS AND METABOLISM
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started