guanidinoacetate

 
National Institutes of Health

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2008
2008
Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited neurometabolic disorder biochemically characterized by… (More)
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2005
2005
 
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2004
2004
We established an analytical methodology for guanidinoacetate and creatine determination by gas chromatography-mass spectrometry… (More)
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Highly Cited
2004
Highly Cited
2004
We report studies of a Croatian boy, a proven case of human S-adenosylhomocysteine (AdoHcy) hydrolase deficiency. Psychomotor… (More)
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Highly Cited
2001
Highly Cited
2001
S-adenosylmethionine, formed by the adenylation of methionine via S-adenosylmethionine synthase, is the methyl donor in virtually… (More)
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Highly Cited
2001
Highly Cited
2001
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient… (More)
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Highly Cited
2001
Highly Cited
2001
Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of… (More)
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2000
2000
Guanidinoacetate methyltransferase deficiency is a newly recognized inborn error of creatine biosynthesis. Manifestation of… (More)
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Review
1997
Review
1997
amino acid whose metabolism is at the intersection of The more severe cases of hyperhomocysteinemia are two metabolic pathways… (More)
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Highly Cited
1994
Highly Cited
1994
ABSTRACT: In a patient with extrapyramidal movement disorder and extremely low creatinine concentrations in serum and urine, in… (More)
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