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Items: 2

1.
A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report
Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo, Jiansheng Xie
BMC Med Genet. 2018; 19: 193. Published online 2018 Nov 6. doi: 10.1186/s12881-018-0707-5
PMCID:
PMC6219255
AbstractArticlePDF–904K
2.
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females
S. Dreha-Kulaczewski, V. Kalscheuer, A. Tzschach, H. Hu, G. Helms, K. Brockmann, A. Weddige, P. Dechent, G. Schlüter, R. Krätzner, H.-H. Ropers, J. Gärtner, B. Zirn
JIMD Rep. 2014; 13: 91–99. Published online 2013 Nov 5. doi: 10.1007/8904_2013_261
PMCID:
PMC4110338
AbstractArticlePDF–319K

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