Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 1, 2012, Pages 50-58

  Young, Sarah P ^a   Piraud, Monique ^b   Goldstein, Jennifer L ^a   Zhang, Haoyue ^a   Rehder, Catherine ^c   Laforet, Pascal ^a   Kishnani, Priya S ^a   Millington, David S ^a   Bashir, Mustafa R ^a   Bali, Deeksha S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b HOSPICES CIVILS DE LYON   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Biomarker; Glc 4; Glucose tetrasaccharide; Pompe disease; Whole body MRI

Indexed keywords

ALPHA GLUCOSIDASE; ASPARTATE AMINOTRANSFERASE; BIOLOGICAL MARKER; CYTOKERATIN; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLUCOSE; GLUCOSE TETRASACCHARIDE; GLYCOGEN; UNCLASSIFIED DRUG;

ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CLINICAL ASSESSMENT; DIAGNOSTIC ACCURACY; DIAGNOSTIC IMAGING; DISEASE SEVERITY; ENZYME REPLACEMENT; GENE SEQUENCE; GLUCOSE URINE LEVEL; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY;

ADULT; AGE FACTORS; AGED; ALPHA-GLUCOSIDASES; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; DIAGNOSTIC IMAGING; DISEASE PROGRESSION; ENZYME REPLACEMENT THERAPY; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT, NEWBORN; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; OLIGOSACCHARIDES; PROGNOSIS; SEQUENCE ANALYSIS, DNA; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84862803485     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31320     Document Type: Article

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