HADHB

Publications

Dagher R et al. MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations. Mol Genet Metab. 2021; May;133(1):1-7. PMID: 33744096.

Gabriela Elizondo et al. Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD. Mol Genet Metab. 2020; Sep-Oct;131(1-2):90-97. PMID: 32928639.

van Vliet P et al. Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency. JIMD Rep. 2018; 38:101-105. PMID: 28685493.

Bo R, et al. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. J Hum Genet. 2017; Sep;62(9):809-814. PMID: 28515471.

Gillingham MB et al. Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial. J Inherit Metab Dis. 2017; Nov;40(6):831-843. PMID: 28871440.

Djouadi F et al. Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate. J Inherit Metab Dis. 2016; Jan;39(1):47-58. PMID: 26109258.

Ushikubo S et al. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. Am J Hum Genet. 1996 May;58(5):979-88. PMID: 8651282.