Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate

European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene

(2015) Manuel Haas et al.   NEUROMUSCULAR DISORDERS

Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts

(2014) Virginie Aires et al.   Orphanet Journal of Rare Diseases

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

(2013) Simon E Olpin   JOURNAL OF INHERITED METABOLIC DISEASE

Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function

(2013) John Massie et al.   LANCET

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

(2012) Autumn L. Fletcher et al.   MOLECULAR GENETICS AND METABOLISM

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

(2011) A. Boutron et al.   MOLECULAR GENETICS AND METABOLISM

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

(2010) Jolanta Sykut-Cegielska 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

Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening

(2010) Astrid Sperk et al.   MOLECULAR GENETICS AND METABOLISM

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders

(2008) F. Djouadi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency

(2008) Jamiyan Purevsuren et al.   MOLECULAR GENETICS AND METABOLISM