Volume 8 - Issue 1 Articles Re-Evaluation of Diagnosis Glycogen Storage Disease Type 1b Based on Familiar Co-Segregation Analysis and Whole Exome Sequencing Result Article Vladimir Bzduch Katarina Skalicka Gabriela Hrckova August 09, 2023 | Pages : 205 - 450 Abstract We presented case report „Fatal manifestation of glycogen storage disease type 1b as an e-poster in SSIEM meeting in Freiburg last year, which was published as an abstract in JIMD Abstract EPub XML Full text PDF