Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Grünert, Sarah C ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

ETFA; ETFB; ETFDH; Glutaric aciduria type 2; Lipid storage myopathy; Metabolic decompensation; Muscle weakness; Riboflavin

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARBOXYLIC ACID; ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; OXIDOREDUCTASE; RIBOFLAVIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD CHEMISTRY; CHILD; CONTROLLED STUDY; DIAGNOSTIC TEST; DRUG EFFICACY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HYPOGLYCEMIA; INFANT; MAJOR CLINICAL STUDY; MALE; METABOLIC ACIDOSIS; METABOLIC DISORDER; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE DISEASE; MUSCLE WEAKNESS; MYALGIA; ONSET AGE; SYMPTOM; TREATMENT RESPONSE; URINALYSIS; WELLBEING; GENETICS; PATHOLOGY; YOUNG ADULT; AGE; CLINICAL FEATURE; DELAYED DIAGNOSIS; ETFDH GENE; GENE; GENETIC ANALYSIS; LIPID BLOOD LEVEL; NEWBORN; SYMPTOM ASSESSMENT; URINE LEVEL;

ADULT; AGE OF ONSET; FEMALE; GENETIC HETEROGENEITY; HUMANS; MALE; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; YOUNG ADULT;

EID: 84906557483     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0117-5     Document Type: Article

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