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Clinical and functional description of disease severity in multiple acyl-CoA dehydrogenase deficiency: a retrospective and laboratory cohort study GalleryClinical 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 multiple acyl-CoA dehydrogenase deficiency: a retrospective and laboratory cohort study
Clinical and functional description of disease severity in [...]
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 [...]
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Improved outcomes with triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders (LC-FAOD) treated via an expanded access program (EAP) GalleryImproved 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 long-chain fatty acid oxidation disorders (LC-FAOD) treated via an expanded access program (EAP)
Improved outcomes with triheptanoin (UX007) in patients with [...]
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Evaluation of mitochondrial bioenergetics, dynamics, superoxide levels and endoplasmic reticulum-mitochondria crosstalk in fibroblasts from patients with ETHE1 and MOCS1 deficiencies GalleryEvaluation 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 endoplasmic reticulum-mitochondria crosstalk in fibroblasts from patients with ETHE1 and MOCS1 deficiencies
Evaluation of mitochondrial bioenergetics, dynamics, superoxide levels and [...]
The interplay between inflammation and FAOD in the pathogenesis of infection associated encephalopathy
The interplay between inflammation and FAOD in the [...]
GMDI/SERN VLCAD Nutrition Guidelines
GMDI/SERN VLCAD Nutrition Guidelines [...]
THE MIXED OXIDASE/DEHYDROGENASE ACTIVITIES OF HUMAN LONG-CHAIN ACYL-COA DEHYDROGENASE (LCAD)
THE MIXED OXIDASE/DEHYDROGENASE ACTIVITIES OF HUMAN LONG-CHAIN ACYL-COA [...]
DEVELOPMENT OF A CLINICAL SEVERITY SCORE FOR MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY
DEVELOPMENT OF A CLINICAL SEVERITY SCORE FOR MULTIPLE [...]
UNUSUAL TRIPLE TROUBLES OF GENETIC DISORDERS LEAD TO COMPLEX CLINICAL PRESENTATIONS
UNUSUAL TRIPLE TROUBLES OF GENETIC DISORDERS LEAD TO [...]
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Assessment of glycerol phenylbutyrate as a chaperone in the treatment of patients with MCAD deficiency caused by the common 985 A>G (K304E) mutation GalleryAssessment 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 the treatment of patients with MCAD deficiency caused by the common 985 A>G (K304E) mutation
Assessment of glycerol phenylbutyrate as a chaperone in [...]
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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? Gallery
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 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 [...]
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Experimental evidence that monocarboxylic long-chain hydroxy fatty acids accumulating in MTP and LCHAD deficiencies markedly disrupt mitochondrial bioenergetics in rat skeletal muscle Gallery
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 accumulating in MTP and LCHAD deficiencies markedly disrupt mitochondrial bioenergetics in rat skeletal muscle
Experimental evidence that monocarboxylic long-chain hydroxy fatty acids [...]