If you presented a poster on a Cerebral Creatine Deficiency Syndrome and would like it listed here, email us at research@creatineinfo.org with the poster file attached and the author name(s), conference it was presented at, month and year presented, and any additional details or questions.
May 2024: This poster was presented at the Curating the Clinical Genome Conference and highlights the collaboration between ACD and the ClinGen VCEP to facilitate the reclassification of CCDS variants.
September 2023: ACD assisted Dr. Andreas Schulze in recruitment of sibling pairs for his study on the outcomes of early treated GAMT deficiency. He presented an informational poster on his findings at the Society for the Study of Inborn Errors of Metabolism (SSEIM) 2023 Annual Symposium in Jerusalem. This poster clearly shows the benefits of an early vs. late diagnosis of GAMT deficiency.
View the Poster Here
