Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

Journal of Inherited Metabolic Disease

Volumn 36, Issue 4, 2013, Pages 645-658

  Olpin, Simon E ^a  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; ADENOSINE TRIPHOSPHATE; BEZAFIBRATE; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; DECANOIC ACID; GENTAMICIN; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; LONG CHAIN FATTY ACID; MUTANT PROTEIN; OCTANOIC ACID; PALMITOYL COENZYME A HYDROLASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; RESVERATROL; UNCLASSIFIED DRUG; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE;

ADULT RESPIRATORY DISTRESS SYNDROME; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CARNITINE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE TYPE 1 DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE TYPE 2 DEFICIENCY; CONFERENCE PAPER; ENERGY METABOLISM; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FATTY ACID OXIDATION DISORDER; HUMAN; HYPOGLYCEMIA; LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENASE DEFICIENCY; MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY; METABOLIC DISORDER; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MOLECULAR PATHOLOGY; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MYOPATHY; NONHUMAN; PHENOTYPIC VARIATION; PROTEIN PROTEIN INTERACTION; RIBOFLAVIN RESPONSIVE MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; UPREGULATION; VERY LONG CHAIN ACYL COA DEHYDROGENASE DEFICIENCY;

FATTY ACIDS; HUMANS; LIPID METABOLISM; LIPID METABOLISM, INBORN ERRORS; OXIDATION-REDUCTION; PHENOTYPE;

EID: 84880236915     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9611-5     Document Type: Conference Paper

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