Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection.
D046508:Culture Techniques; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D005808:Genes, Recessive; D005964:Glucosyltransferases / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male
D005964:Glucosyltransferases