Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine |
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| Authors: | Alina Kurolap,Anja Armbruster,Tova Hershkovitz,Katharina Hauf,Adi Mory,Tamar Paperna,Ewald Hannappel,Galit Tal,Yusif Nijem,Ella Sella,Muhammad Mahajnah,Anat Ilivitzki,Dov Hershkovitz,Nina Ekhilevitch,Hanna Mandel,Volker Eulenburg,Hagit N. Baris |
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| Affiliation: | 1 The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel;2 The Ruth and Bruce Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa 3525433, Israel;3 Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen 91054, Germany;4 Metabolic Unit, Rambam Health Care Campus, Haifa 3109601, Israel;5 Pediatric and Neonatal Unit, EMMS Nazareth Hospital, Nazareth 1607907, Israel;6 Child Neurology and Development Center, Hillel Yaffe Medical Center, Hadera 3810101, Israel;7 Pediatric Radiology Unit, Radiology Department, Rambam Health Care Campus, Haifa 3109601, Israel;8 Department of Pathology, Rambam Health Care Campus, Haifa 3109601, Israel |
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| Abstract: | |
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| Keywords: | Glycine transporter GLYT1 SLC6A9 encephalopathy hypotonia hypertonicity arthrogryposis respiratory failure |
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