PMID 27081545 2015 A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.
PMID 20846889 2010 Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
PMID 24137762 2010 The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
PMID 16738945 2006 X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
PMID 10893433 2000 Creatine and creatinine metabolism.
PMID 15154114 2004 High prevalence of SLC6A8 deficiency in X-linked mental retardation.
PMID 28065824 2017 Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
PMID 20528887 2011 Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
PMID 24190795 2014 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.
PMID 23644449 2013 Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
rs80338739 in
SLC6A8 gene and
Muscle hypotonia
PMID 27081545 2015 A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.
PMID 20846889 2010 Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
PMID 20528887 2011 Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
PMID 23644449 2013 Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
PMID 16738945 2006 X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
PMID 10893433 2000 Creatine and creatinine metabolism.
PMID 24137762 2010 The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
PMID 15154114 2004 High prevalence of SLC6A8 deficiency in X-linked mental retardation.
PMID 28065824 2017 Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
PMID 24190795 2014 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.
PMID 15234334 2004 Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.