Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Molecular Genetics and Metabolism

Volumn 106, Issue 4, 2012, Pages 462-469

  Hobson Webb, Lisa D ^a   Proia, Alan D ^a   Thurberg, Beth L ^b   Banugaria, Suhrad ^a   Prater, Sean N ^a   Kishnani, Priya S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b GENZYME CORPORATION   (United States)

Author keywords

Autopsy; Organ involvement; Pathology; Pompe disease; Systemic

Indexed keywords

EPOXY RESIN; LIPOFUSCIN; PARAFFIN;

ADULT; AORTA ANEURYSM; AORTA ATHEROSCLEROSIS; ARTICLE; ASCENDING AORTA; ASPHYXIA; AUTOPSY; BASILAR ARTERY; BICEPS BRACHII MUSCLE; BONE MARROW DISEASE; CAROTID ARTERY INJURY; CASE REPORT; CAUCASIAN; CAUSE OF DEATH; CLIMBING; CORRELATION ANALYSIS; DIABETIC NEPHROPATHY; DYSPHAGIA; DYSPNEA; ENZYME ACTIVITY; FEMALE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GLYCOGEN MUSCLE LEVEL; GLYCOGEN STORAGE DISEASE TYPE 2; HEART MUSCLE CELL; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERPLASIA; HYPERTENSION; HYPOXEMIA; LEG MUSCLE; LEIOMYOMA; LUNG FUNCTION TEST; MEDICAL RECORD REVIEW; MICROSCOPY; MORBID OBESITY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOSITIS; NON INSULIN DEPENDENT DIABETES MELLITUS; OBSESSIVE COMPULSIVE DISORDER; OXYGEN THERAPY; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SKIN FIBROBLAST; SMOOTH MUSCLE FIBER; SPLENOMEGALY; STANDING; STOMACH HEMORRHAGE; STOMACH MUCOSA; TRANSMISSION ELECTRON MICROSCOPY; TRICEPS BRACHII MUSCLE; URINE INCONTINENCE; VASCULAR SMOOTH MUSCLE; WALKING AID;

AGE OF ONSET; AUTOPSY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFLAMMATION; LYSOSOMES; MIDDLE AGED; ORGAN SPECIFICITY;

EID: 84864357489     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.05.007     Document Type: Article

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