Associated Papers
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
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.
Suyama T et al.
Molecular Genetics and Metabolism Reports, 2020
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.
Bo R et al.
Journal of Human Genetics, 2017
A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis.
Bo R et al.
Molecular Genetics and Metabolism Reports, 2016
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
Djouadi F et al.
Journal of Inherited Metabolic Disease, 2016
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
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
Park HD et al.
Annals of Clinical and Laboratory Science, 2009
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