caa a22 4500 467933332 CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060401xx s 000 0 eng 10.1007/s10545-006-0271-6 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0271-6 Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts [Elektronische Daten] [Efraim Rosenberg, Cristina Muñoz, Ton Degrauw, Cor nelis Jakobs, Gajja Salomons] Summary: In the study reported, we prove that mutations in the SLC6A8 gene are responsible for SLC6A8 deficiency, a cerebral creatine deficiency syndrome (CCDS), since overexpression of the wild-type SLC6A8 open reading frame (ORF) restores the creatine uptake profile in SLC6A8-deficient fibroblasts. SSIEM and Springer, 2006 Rosenberg Efraim Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands aut Muñoz Cristina Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands aut Degrauw Ton Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA aut Jakobs Cor nelis Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands aut Salomons Gajja Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 345-346 0141-8955 29:2-3<345 2006 29 10545 https://doi.org/10.1007/s10545-006-0271-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0271-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rosenberg Efraim Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Muñoz Cristina Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Degrauw Ton Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA aut NATIONALLICENCE 700 1- Jakobs Cor nelis Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Salomons Gajja Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 345-346 0141-8955 29:2-3<345 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer