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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… 
National Institutes of Health

Related topics

Related topics

27 relations
Aggressive behaviorAttention deficit hyperactivity disorderBRACHYDACTYLY, TYPE DBlepharoptosis

Broader (4)

Brain Diseases, Metabolic, InbornCreatineMental Retardation, X-LinkedPlasma Membrane Neurotransmitter Transport Proteins

Papers overview

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Highly Cited
2011
Highly Cited
2011
Unstimulated whole saliva creatine phosphokinase in acute myocardial infarction.
OBJECTIVE Accurate and rapid diagnosis of acute myocardial infarction (MI) is of major medical and economic importance. The… 
2003
2003
Quantitative determination of creatine kinase release from herring (Clupea harengus) spermatozoa induced by tributyltin.
1980
1980
Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker)
Highly Cited
1974
Highly Cited
1974
Black-white differences in serum creatine phosphokinase (CPK) activity.
Highly Cited
1972
Highly Cited
1972
Inheritance of malignant hyperpyrexia.
1971
1971
Serum Creatine Phosphokinase Activity in Newly Admitted Psychiatric Patients: Part II
Serum creatine phosphokinase (CPK) activity was determined in 726 patients and correlated with psychiatric diagnosis. Eighty… 
Highly Cited
1970
Highly Cited
1970
The genetic background to malignant hyperpyrexia revealed by serum creatine phosphokinase estimations in asymptomatic relatives.
SUMMARY The familial aspects of malignant hyperpyrexia, are discussed and a method for identifying the asymptomatic carriers of… 
1965
1965
Creatine phosphokinase activity in serum of newborn infants as an indicator of fetal trauma during birth.
1965
1965
The Carrier State in Muscular Dystrophy of the Duchenne Type: Identification by Serum Creatine Kinase Level
Serum creatine phosphokinase (CPK) levels were studied under basal conditions in 75 female relatives of patients with muscular… 
1961
1961
Metabolic control of creatine biosynthesis. II. Restoration of transamidinase activity following creatine repression.
In recent years, two novel metabolic control mechanisms have been discovered in unicellular organisms (cf. 1, 2). Both mechanisms… 
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