title: Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings.
authors.affiliation: Department of Pediatrics and Neonatology, University Children's Hospital, Kirrbergerstrasse, Building 9, 66421, Homburg/Saar, Germany. donaldwurm@freenet.de
authors.forename: Donald
authors.initials: D
authors.lastname: Wurm
authors.forename: Andrea
authors.initials: A
authors.lastname: Hänsgen
authors.forename: Yoo-Jin
authors.initials: YJ
authors.lastname: Kim
authors.forename: Angelika
authors.initials: A
authors.lastname: Lindinger
authors.forename: Ali
authors.initials: A
authors.lastname: Baghai
authors.forename: Ludwig
authors.initials: L
authors.lastname: Gortner
mesh_terms: D000483:Alleles; D001344:Autopsy; D018981:Congenital Disorders of Glycosylation / Q000201:enzymology / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010641:Phenotype; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics*; D035781:Siblings
chemical_list: D017875:Phosphotransferases (Phosphomutases)