Associated Papers
New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
Baydakova GV et al.
International Journal of Neonatal Screening, 2023
37754774 (PubMed )
Supplement: IJNS-09-00048-s001.zip › IJNS-2558440-supplementary.pdf
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
Dessein AF et al.
Molecular Genetics and Metabolism Reports, 2022
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Dulz S et al.
Ophthalmic Genetics, 2021
Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy.
Guan Y et al.
Frontiers in Neurology, 2021
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
27578510 (PubMed )
Supplement: alm-36-561-s011.pdf
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
Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review.
Rakheja D et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2002
Select a paper to view details