Glycogen storage disease type IX: Novel PHKA2 missense mutation and cirrhosis

Journal of Pediatric Gastroenterology and Nutrition

Volumn 55, Issue 1, 2012, Pages 90-92

  Johnson, Abiodun O ^a   Goldstein, Jennifer L ^b   Bali, Deeksha ^b  

^a TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER   (United States)

^b DUKE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; DNA DETERMINATION; ELECTROCARDIOGRAM; FAMILY HISTORY; GENE; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 9; HEPATOMEGALY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; LABORATORY TEST; LIVER CIRRHOSIS; MALE; MISSENSE MUTATION; PHKA2 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL;

GLYCOGEN STORAGE DISEASE; HUMANS; INFANT; LIVER CIRRHOSIS; MALE; MUTATION, MISSENSE; PHOSPHORYLASE KINASE;

EID: 84862329396     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31823276ea     Document Type: Article

References (7)

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