What is the pathogenesis of creatine transporter deficiency?
Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment. X-linked creatine transporter deficiency (CRTR-D) (MIM 300352) causes intellectual disability characterized by cerebral creatine deficiency.
What is X-linked creatine transporter deficiency (crtr-D)?
X-linked creatine transporter deficiency (CRTR-D) (MIM 300352) causes intellectual disability characterized by cerebral creatine deficiency. More than 10 years after its discovery we have gained much knowledge regarding the clinical consequences of this disorder.
What is creatine with a transport system?
Creatine with a transport system - what is it and how to take it? Creatine with a transport system is a sports supplement that combines creatine and substances that promote its rapid absorption and delivery to the muscles. It belongs to the category of pre-workout complexes.
Is guanidinoacetate methyltransferase null variants associated with creatine transport abnormalities?
This appears not to be the case for either human or mouse creatine system abnormalities. 32 Mice with guanidinoacetate methyltransferase (GAMT) null variants appear to have less significant cardiac phenotype 33, 34, 35 than mice with creatine transport abnormalities.
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