Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome

Author:

Shen Ming,Yang Guangming,Chen Zhehui,Yang Kai,Dong Hui,Yin Chengliang,Cheng Yuxuan,Zhang Chunyan,Gu Fangyan,Yang Yanling,Tian Yaping

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference32 articles.

1. The creatine kinase system and pleiotropic effects of creatine;Wallimann;Amino Acids,2011

2. S. Mercimek-Andrews, G.S. Salomons, Creatine Deficiency Syndromes, (2009 Jan 15 [Updated 2015 Dec 10]), in: M.P. Adam, H.H. Ardinger, R.A. Pagon et al. (Eds.), GeneReviews® [Internet]. University of Washington, Seattle, Seattle (WA), 1993-2021.

3. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome;Salomons;Am. J. Hum. Genet.,2001

4. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency;van de Kamp;J. Med. Genet.,2013

5. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans;Item;Am. J. Hum. Genet.,2001

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