Inborn errors of ketogenesis and ketone body utilization

Journal of Inherited Metabolic Disease

Volumn 35, Issue 1, 2012, Pages 23-28

  Sass, Jörn Oliver ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLACTOACETYL COENZYME A THIOLASE; 3 HYDROXY 3 METHYLGLUTARYL COENZYZME A; 3 HYDROXY 3 METHYLGLUTARYL COENZYZME A LYASE; 3 HYDROXY 3 METHYLGLUTARYL COENZYZME A SYNTHASE; 3 OXOACID COENZYME A TRANSFERASE; ACETOACETIC ACID; CARNITINE; ISOLEUCINE; KETONE BODY; LEUCINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; SUCCINYL COENZYME A; UNCLASSIFIED DRUG;

ARTICLE; CATABOLISM; CATALYSIS; D 3 HYDROXY N BUTYRATE DEHYDROGENASE DEFICIENCY; DECARBOXYLATION; DIFFERENTIAL DIAGNOSIS; ENERGY RESOURCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME MECHANISM; FAT INTAKE; FATTY ACID OXIDATION; GENETIC DISORDER; GLUCONEOGENESIS; GLYCOGEN STORAGE DISEASE; HUMAN; INBORN ERROR OF METABOLISM; KETOACIDOSIS; KETOGENESIS; KETOLYSIS; KETONURIA; LACTIC ACIDOSIS; LIPID METABOLISM; MAPLE SYRUP URINE DISEASE; METABOLIC ACIDOSIS; PHENOTYPE; PROGNOSIS; PROPIONIC ACIDEMIA; PROTEIN CLEAVAGE;

BIOLOGICAL MARKERS; BRAIN; CATALYSIS; DIAGNOSIS, DIFFERENTIAL; FATTY ACIDS; HUMANS; HYDROXYBUTYRATE DEHYDROGENASE; KETONE BODIES; KETONES; METABOLISM, INBORN ERRORS; TREATMENT OUTCOME;

EID: 84863329676     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9324-6     Document Type: Article

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