Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 496-500

  Horvath, Jeffrey J ^a   Austin, Stephanie L ^a   Jones, Harrison N ^a   Drake, Elizabeth J ^a   Case, Laura E ^a   Soher, Brian J ^a   Bashir, Mustafa R ^a   Kishnani, Priya S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Bulbar muscles; Fat fraction; Glycogen storage disease type III; Lingual weakness; MRI; Tongue

Indexed keywords

ADULT; ARTICLE; BULBAR PARALYSIS; CASE REPORT; CHILD; CHOLESTEROL BLOOD LEVEL; DIET THERAPY; DISEASE SEVERITY; DYSARTHRIA; DYSPHAGIA; DYSPHONIA; EUTHANASIA; FEMALE; GENE MUTATION; GENE SEQUENCE; GENU RECURVATUM; GLYCOGEN STORAGE DISEASE TYPE 3; GLYCOGEN STORAGE DISEASE TYPE 3A; HEPATOMEGALY; HUMAN; HYPERTRANSAMINASEMIA; JAW MUSCLE; LIVER BIOPSY; LOUDNESS; MUSCLE ATROPHY; MUSCLE STRENGTH; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DIET; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SPEECH THERAPY; STAPEDECTOMY; TONGUE; TONGUE DISEASE;

ADIPOSE TISSUE; ADULT; ANIMALS; CHILD; DEGLUTITION DISORDERS; DOGS; DYSARTHRIA; FEMALE; GLYCOGEN; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; TONGUE;

EID: 84867898687     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.09.025     Document Type: Article

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