Results 1 -
6
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6
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Creatine "deficiency," "X-linked"
- ... defect Creatine transporter deficiency SLC6A8 deficiency SLC6A8-related creatine transporter deficiency X-linked creatine deficiency syndrome Genetic Testing Registry: Creatine transporter ...
- ... 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- ...
- 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. ...
- ... maltase Lysosomal glycogen storage disease without acid maltase deficiency X-linked pseudoglycogenosis II X-linked vacuolar cardiomyopathy and myopathy ...
- Muscular Dystrophy (National Institute of Neurological Disorders and Stroke)Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Muscular dystrophy ( ...
- What is Kennedy's Disease: Symptoms (Kennedy's Disease Association)Spinal Muscular Atrophy/Symptoms ... Spinal Muscular Atrophy ... Kennedy's Disease Association