title: Prenatal diagnosis of glycogen storage disorder type III.
abstract: Among glycogen storage disorders, deficiency of glycogen debranching enzyme causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure in liver and muscle. This report describes a novel mutation in a family with glycogen storage disorder Type III in index child used in prenatal diagnosis in the fetus in second trimester.
authors.affiliation: Department of Clinical Genetics, Fetal Care Research Foundation, Chennai, India. fcrfchennai@yahoo.com
authors.forename: J
authors.initials: J
authors.lastname: Sujatha
authors.forename: I V
authors.initials: IV
authors.lastname: Amithkumar
authors.forename: B
authors.initials: B
authors.lastname: Lathaa
mesh_terms: D002648:Child; D005260:Female; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*