Creatine deficiency, X-linked

Known as: Cerebral creatine deficiency syndrome 1, X-Linked Creatine Deficiency, Creatine Deficiency Syndrome, X-Linked 
A rare X-linked inherited disorder. It is caused by mutations in the SLC6A8 gene resulting in the absence of a compound needed to transport creatine… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1959-2017
024619592017

Papers overview

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2014
2014
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked… (More)
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Review
2014
Review
2014
Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral… (More)
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2013
2013
The creatine/phosphocreatine system carries ATP from production to consumption sites and buffers the intracellular content of ATP… (More)
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2011
2011
Creatine deficiency syndrome due to mutations in X-linked SLC6A8 gene results in nonspecific intellectual disability (ID… (More)
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2010
2010
X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine… (More)
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2005
2005
Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors… (More)
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2005
2005
Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors… (More)
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2003
2003
An X-linked creatine deficiency syndrome caused by mutations in the creatine transporter gene SLC6A8/CRTR mapped to Xq28 has… (More)
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2002
2002
Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous… (More)
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2002
2002
BACKGROUND Two inborn errors of metabolism of creatine synthesis as well as the X-linked creatine transporter (SLC6A8) deficiency… (More)
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