Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: A case report and review

Human Pathology

Volumn 43, Issue 6, 2012, Pages 943-951

  Magoulas, Pilar L ^a   El Hattab, Ayman W ^b   Roy, Angshumoy ^a   Bali, Deeksha S ^c   Finegold, Milton J ^a   Craigen, William J ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MISSOURI   (United States)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

GBE1; Glycogen branching enzyme; Glycogen storage disease type IV; Reticuloendothelial system

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; GENOMIC DNA; GLUCOSE DERIVATIVE; GLYCINE; MESSENGER RNA; POLYGLUCOSAN; UNCLASSIFIED DRUG;

BONE MARROW; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; FOAM CELL; FRAMESHIFT MUTATION; GBE1 GENE; GENE; GENE DELETION; GENE MUTATION; GENETIC CONSERVATION; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 4; HEART MUSCLE CELL; HETEROZYGOTE; HISTIOCYTE; HUMAN; HUMAN TISSUE; INFANT; KUPFFER CELL; LIVER CELL; LIVER DISEASE; LIVER TRANSPLANTATION; LYMPH NODE; MACROPHAGE; MEDICAL LITERATURE; MICROPHOTOGRAPHY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; NULL ALLELE; RETICULOENDOTHELIAL SYSTEM; RETICULOENDOTHELIOSIS; REVIEW; SEQUENCE ANALYSIS; SPLEEN; SPLICING DEFECT; TRANSMISSION ELECTRON MICROSCOPY; TREATMENT OUTCOME;

EID: 84861187510     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2011.10.001     Document Type: Article

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