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Clinical and functional description of disease severity in multiple acyl-CoA dehydrogenase deficiency: a retrospective and laboratory cohort study

Clinical and functional description of disease severity in [...]

By |October 14th, 2019|Categories: 2019 Abstracts|0 Comments

Sex specific lipid perturbation in response to octanoate in very-long chain acyl-CoA dehydrogenase deficient (VLCAD-/-) mice

Sex specific lipid perturbation in response to octanoate [...]

By |October 13th, 2019|Categories: 2019 Abstracts|0 Comments

Improved outcomes with triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders (LC-FAOD) treated via an expanded access program (EAP)

Improved outcomes with triheptanoin (UX007) in patients with [...]

By |October 10th, 2019|Categories: 2019 Abstracts|0 Comments

Evaluation of mitochondrial bioenergetics, dynamics, superoxide levels and endoplasmic reticulum-mitochondria crosstalk in fibroblasts from patients with ETHE1 and MOCS1 deficiencies

Evaluation of mitochondrial bioenergetics, dynamics, superoxide levels and [...]

By |December 26th, 2018|Categories: 2018 Abstracts|0 Comments

Assessment of glycerol phenylbutyrate as a chaperone in the treatment of patients with MCAD deficiency caused by the common 985 A>G (K304E) mutation

Assessment of glycerol phenylbutyrate as a chaperone in [...]

By |December 26th, 2018|Categories: 2016 Abstracts|0 Comments

Disruption of brain and liver mitochondrial function caused by cis-4-decenoic and decanoic acids but not by octanoylcarnitine and decanoylcarnitine: is L-carnitine supplementation protective to MCAD deficient patients?

Disruption of brain and liver mitochondrial function caused [...]

By |December 26th, 2018|Categories: 2016 Abstracts|0 Comments

Experimental evidence that monocarboxylic long-chain hydroxy fatty acids accumulating in MTP and LCHAD deficiencies markedly disrupt mitochondrial bioenergetics in rat skeletal muscle

Experimental evidence that monocarboxylic long-chain hydroxy fatty acids [...]

By |December 26th, 2018|Categories: 2016 Abstracts|0 Comments
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