Condition: Creatine deficiency, X-linked


rs1060502808 in SLC6A8 gene and Creatine deficiency, X-linked PMID 20602486 2010 Creatine transporter deficiency in two half-brothers.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 17101918 2006 High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

PMID 23660394 2013 Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

PMID 25861866 2015 Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

PMID 12210795 2002 X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

PMID 17465020 2007 Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

PMID 24123876 2013 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

PMID 15154114 2004 High prevalence of SLC6A8 deficiency in X-linked mental retardation.

PMID 11898126 2002 X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

PMID 16738945 2006 X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

PMID 21910234 2011 Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.

PMID 21836662 2009 Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

PMID 25803912 2015 A reduced creatine peak on brain magnetic resonance spectroscopy and a known pathogenic mutation in the SLC6A8 gene (c.1661 C > T;p.Pro554Leu) confirmed the diagnosis of CRTR-D.

PMID 21140503 2011 Defining the pathogenicity of creatine deficiency syndrome.

PMID 16601898 2006 X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

PMID 19706062 2009 Epilepsy spectrum in cerebral creatine transporter deficiency.

PMID 22644605 2013 Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.

PMID 23644449 2013 Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

rs122453115 in SLC6A8;PNCK gene and Creatine deficiency, X-linked PMID 11898126 2002 X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 17465020 2007 Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

PMID 25861866 2015 Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

PMID 17101918 2006 High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

PMID 15154114 2004 High prevalence of SLC6A8 deficiency in X-linked mental retardation.

PMID 23660394 2013 Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

PMID 12210795 2002 X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

PMID 24123876 2013 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.