Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application
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C. Schwartz | T. Degrauw | T. Kleefstra | G. Salomons | E. Rosenberg | C. Jakobs | S. J. V. van Dooren | O. Betsalel | C. Martínez Muñoz | Matilde Fernandez | C. Schwartz | T. DeGrauw
[1] Charles E. Schwartz,et al. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology , 2006, Human Genetics.
[2] T. Degrauw,et al. Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts , 2006, Journal of Inherited Metabolic Disease.
[3] A. Ribes,et al. X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism , 2006, Journal of Inherited Metabolic Disease.
[4] A. Fulton,et al. X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype , 2006, Journal of Inherited Metabolic Disease.
[5] J. Hopper,et al. Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants , 2005, Journal of Medical Genetics.
[6] C. Jakobs,et al. X-linked creatine transporter deficiency , 2005, Neurogenetics.
[7] Joseph F. Clark,et al. Incidence of Brain Creatine Transporter Deficiency in Males with Developmental Delay Referred for Brain Magnetic Resonance Imaging , 2005, Journal of developmental and behavioral pediatrics : JDBP.
[8] C. Catsman-Berrevoets,et al. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families , 2005, American journal of medical genetics. Part A.
[9] H. Ropers,et al. High prevalence of SLC6A8 deficiency in X-linked mental retardation. , 2004, American journal of human genetics.
[10] M. L. Cardoso,et al. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. , 2004, Molecular genetics and metabolism.
[11] C. Schwartz,et al. X-linked creatine transporter defect: An overview , 2003, Journal of Inherited Metabolic Disease.
[12] A. Bizzi,et al. X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8 , 2002, Annals of neurology.
[13] H. Brunner,et al. Low frequency of MECP2 mutations in mentally retarded males , 2002, European Journal of Human Genetics.
[14] H. Moser,et al. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. , 2002, American journal of human genetics.
[15] William S. Ball,et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. , 2001, American journal of human genetics.
[16] M. Wyss,et al. Creatine and creatinine metabolism. , 2000, Physiological reviews.
[17] H. J. Brink,et al. An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. , 1998, Journal of pharmaceutical and biomedical analysis.
[18] A. Poustka,et al. The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. , 1996, Genomics.
[19] S. R. Nash,et al. Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. , 1995, Genomics.
[20] J. Walker. Creatine: biosynthesis, regulation, and function. , 2006, Advances in enzymology and related areas of molecular biology.