Results 1 -
3
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3
for
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- ...
- ... maltase Lysosomal glycogen storage disease without acid maltase deficiency X-linked pseudoglycogenosis II X-linked vacuolar cardiomyopathy and myopathy ...
