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pro vyhledávání: '"Julia F Grafstein"'
Autor:
Fady Hannah-Shmouni, Beth A. Kozel, Niamh X. Cawley, An Dang Do, Audrey Noguchi, Christopher A. Wassif, Danielle A. Springer, Julia F Grafstein, Andrew Smith, Judith Miller, Audrey Thurm, Andreas Schulze, Dylan Hammond, Forbes D. Porter, Simona Bianconi, Mark D. Levin, Christopher F. Spurney, John Perreault, Zu-Xi Yu
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). CTD features include developmental delay, seizures, and autism spectrum disorder. This study was designed to inves
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16583aca1c976b29828aa804685a0a04
https://doi.org/10.1038/s41436-021-01224-8
https://doi.org/10.1038/s41436-021-01224-8
