Results 131 to 140 of about 1,686 (146)

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids

NMR in Biomedicine, 2009
Contains fulltext : 80602.pdf (Publisher’s version ) (Closed access)In patients with guanidinoacetate methyltransferase (GAMT) deficiency several parameters may point towards the diagnosis of GAMT deficiency.
Sabrina Buoni, Berry Kremer, Leo A J Kluijtmans   +2 more
exaly   +2 more sources

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

European Journal of Paediatric Neurology
Objective: To evaluate clinical characteristics and long-term outcomes in patients with guanidinoacetate methyltransferase (GAMT) deficiency with a special emphasis on seizures and electroencephalography (EEG) findings.
Yilmaz Yıldız, Rahsan GÖÇMEN, Dilek Yalnızoğlu   +2 more
exaly   +2 more sources

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[Guanidinoacetate-N-methyltransferase: location in mammalian retina and rat Harderian gland].

Biokhimiia (Moscow, Russia), 1976
Homogenates of retinal external segments of rat, rabbit, beef and hen and of rat Harderian gland were found to possess a considerable activity of guanidineacetate-N-methyltransferase (GAMT, E.C. 2.1.1.2), comparable with the enzyme activity in liver, pancreas and testis.
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[Guanidinoacetate-N-methyltransferase in epiphysis of mammals: stimulating effect of norepinephrine in vitro].

Biokhimiia (Moscow, Russia), 1977
The activity of the enzyme of creatine biosynthesis, S-adenosylmethionine: guanidineacetate-N-methyltransferase (E. C. 2.1.1.2) is discovered in rat and bovine epiphysis homogenates. The enzyme activity was highest in epiphysis of immature and young rats and then decreased linearly with the animal age.
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Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility.

Pakistan journal of pharmaceutical sciences, 2011
The creatine/phosphocreatine system is essential for cellular phosphate coupled energy storage and production, particularly in tissues subject to high metabolic demands. Male factor infertility is a common condition with unknown etiology in most of the cases. Sperm abnormalities could possibly lead to infertility.
Furhan, Iqbal, Chike Bellarmine, Item, Rene, Ratschmann, Muhammad, Ali, Eugen, Plas, Olaf, Bodamer   +5 more
openaire   +1 more source

Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency

Molecular Genetics and Metabolism, 2022
Michele Caggana
exaly  

Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency

Molecular Genetics and Metabolism, 2021
Nicola Longo, Michele Caggana, Marzia Pasquali   +2 more
exaly  

Crystal Structure of Guanidinoacetate Methyltransferase from Rat Liver: A Model Structure of Protein Arginine Methyltransferase

Journal of Molecular Biology, 2002
Junichi Komoto, Yafei Huang, Yoshimi Takata   +2 more
exaly  

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

Molecular Genetics and Metabolism, 2004
S Stöckler-Ipsiroglu, Andreas Schulze, Jürgen Hennig   +2 more
exaly  

[Determination of serum guanidinoacetate-N-methyltransferase].

Laboratornoe delo, 1972
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