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Results 1 - 6 of 6 for Creatine "deficiency," "X-linked"
  1. X-linked creatine deficiency 
    ... defect Creatine transporter deficiency SLC6A8 deficiency SLC6A8-related creatine transporter deficiency X-linked creatine deficiency syndrome Genetic Testing Registry: Creatine transporter ...
    https://medlineplus.gov/.../condition/x-linked-creatine-deficiency - Genetics
  2. SLC6A8 gene 
    ... SLC6A8 gene have been identified in people with X-linked creatine deficiency, a disorder that causes intellectual disability, behavioral problems, ... GS. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013 Jul;50(7):463- ...
    https://medlineplus.gov/genetics/gene/slc6a8 - Genetics
  3. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  4. Danon disease 
    ... maltase Lysosomal glycogen storage disease without acid maltase deficiency X-linked pseudoglycogenosis II X-linked vacuolar cardiomyopathy and myopathy ...
    https://medlineplus.gov/genetics/condition/danon-disease - Genetics
  5. Muscular Dystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Muscular dystrophy (MD) refers to a group of genetic diseases ...
    https://www.ninds.nih.gov/.../disorders/muscular-dystrophy - External Health Links
  6. What is Kennedy's Disease: Symptoms (Kennedy's Disease Association)  
    Kennedy's Disease Association
    https://kennedysdisease.org/what-is-kd/symptoms.html - External Health Links