Associated Papers
Acute Fatty Liver of Pregnancy and Fetal Fatty Acid Oxidation Disorders: A Systematic Review.
Varotsis D et al.
O&g Open, 2026
How Genes Meet Diet in LCHAD Deficiency: Nutrigenomics of Fatty Acid Oxidation Disorder.
Kochan Z et al.
International Journal of Molecular Sciences, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Analysis of clinical characteristics and genetic testing in patients with acute fatty liver of pregnancy: a retrospective study.
Shi Y et al.
Bmc Pregnancy and Childbirth, 2021
Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders.
McCoin CS et al.
Physiological Reports, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
31832098 (PubMed )
Supplement: 13039_2019_459_MOESM4_ESM.xlsx › Sheet1
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Fletcher AL et al.
Molecular Genetics and Metabolism, 2012
Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation.
Behrend AM et al.
Molecular Genetics and Metabolism, 2012
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Boutron A et al.
Molecular Genetics and Metabolism, 2011
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
Sims HF et al.
Proceedings of the National Academy of Sciences of the United States of America, 1995
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.
Gillingham MB et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details