Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II

Muscle and Nerve

Volumn 49, Issue 3, 2014, Pages 446-450

  Rosenbohm, Angela ^a   Süssmuth, Sigurd D ^a   Kassubek, Jan ^a   Müller, Hans Peter ^a   Pontes, Christina ^c   Abicht, Angela ^b   Bulst, Stefanie ^b   Ludolph, Albert C ^a   Pinkhardt, Elmar ^a  

^a UNIVERSITY OF ULM   (Germany)

^b Medizinisch Genetisches Zentrum (MGZ)   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

ETFDH; Glutaric aciduria II; MRI; Multiple acyl coa dehydrogenase deficiency

Indexed keywords

ACYLCARNITINE; ALANINE AMINOTRANSFERASE; CYTOCHROME C OXIDASE; GAMMA GLUTAMYLTRANSFERASE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MEMBRANE PROTEIN; PROTEIN ETFDH; RIBOFLAVIN; SUCCINATE DEHYDROGENASE; TRIACYLGLYCEROL; UBIDECARENONE; UNCLASSIFIED DRUG;

ADIPOSE TISSUE; ADULT; ARTICLE; ARTIFICIAL VENTILATION; BASAL GANGLION; BLOOD CELL COUNT; BODY FAT; BODY WEIGHT; BREATHING MUSCLE; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DIFFUSION TENSOR IMAGING; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ELECTROMYOGRAPHY; ERYTHEMA; FATTY LIVER; FEMALE; FORCED VITAL CAPACITY; FRACTIONAL ANISOTROPY; GENETIC ANALYSIS; HEPATOMEGALY; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; INTRAABDOMINAL FAT; LIPID STORAGE; LOW FAT DIET; LUNG FUNCTION TEST; MISSENSE MUTATION; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; MUSCLE CELL; MUTATIONAL ANALYSIS; MYOPATHY; NONINVASIVE VENTILATION; NUTRITIONAL REQUIREMENT; PRIORITY JOURNAL; QUADRIPLEGIA; RESPIRATORY FUNCTION; RHABDOMYOLYSIS; SUBCUTANEOUS FAT; TANDEM MASS SPECTROMETRY; WHITE MATTER; WHOLE BODY MRI;

ETFDH; GLUTARIC ACIDURIA II; MRI; MULTIPLE ACYL-COA-DEHYDROGENASE DEFICIENCY;

ADULT; ANISOTROPY; BRAIN; DIFFUSION TENSOR IMAGING; ELECTRON-TRANSFERRING FLAVOPROTEINS; FEMALE; HUMANS; IRON-SULFUR PROTEINS; MAGNETIC RESONANCE IMAGING; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; WHOLE BODY IMAGING;

EID: 84893980479     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23979     Document Type: Article

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