High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease

Brain and Development

Volumn 34, Issue 2, 2012, Pages 103-106

  Ishigaki, Keiko ^a   Yoshikawa, Yoko ^a   Kuwatsuru, Ryohei ^a,b   Oda, Eri ^a   Murakami, Terumi ^a   Sato, Takatoshi ^a   Saito, Takashi ^a   Umezu, Ryoji ^c   Osawa, Makiko ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Childhood onset; Computed tomography (CT); Enzyme replacement therapy (ERT); Hepatomegaly; Pompe disease

Indexed keywords

ALANINE AMINOTRANSFERASE; ALPHA GLUCOSIDASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; LACTATE DEHYDROGENASE; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; CASE REPORT; CHILD; CHILDHOOD DISEASE; CLINICAL EFFECTIVENESS; COMPUTER ASSISTED TOMOGRAPHY; CREATINE KINASE BLOOD LEVEL; EARLY DIAGNOSIS; ENZYME REPLACEMENT; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 2; HEPATOMEGALY; HUMAN; LIVER; MUSCLE HYPOTONIA; ONSET AGE; PRESCHOOL CHILD; SKELETAL MUSCLE;

CHILD; ENZYME REPLACEMENT THERAPY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; LIVER; MUSCLE, SKELETAL; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84855605615     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.05.013     Document Type: Article

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