Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases

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

(2015) Fatima Djouadi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations inHADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy

(2014) Misako Naiki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency

(2014) Tomoko Kobayashi et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH

Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial

(2014) M. C. Orngreen et al.   NEUROLOGY

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

(2013) Young Bin Hong et al.   BMC Medical Genetics

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

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

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

A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence

(2011) Mariko Yagi 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

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

Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency

(2009) Jamiyan Purevsuren et al.   MOLECULAR GENETICS AND METABOLISM

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