Results 61 to 70 of about 1,686 (146)

Phosphorylated guanidinoacetate partly compensates for the lack of phosphocreatine in skeletal muscle of mice lacking guanidinoacetate methyltransferase.

, 2004
The effects of creatine (Cr) absence in skeletal muscle caused by a deletion of guanidinoacetate methyltransferase (GAMT) were studied in a knockout mouse model by in vivo (31)P magnetic resonance (MR) spectroscopy.
Heerschap, A., Isbrandt, D., W. Klaas Jan Renema, Renema, W.K.J., Dirk Isbrandt, Hermien E. Kan, Arend Heerschap, Kan, H.E.   +7 more
core   +1 more source

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism

, 2019
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis. Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental ...
Fatma Müjgan Sönmez, Halil İbrahim Aydın   +1 more
core   +1 more source

COMPENSATION FOR IMPAIRED MYOCARDIAL PHOSPHOTRANSFER IN GUANIDINOACETATE-N-METHYLTRANSFERASE KNOCKOUT MICE [PDF]

Heart, 2016
Aksentijevic, D, Lygate, C, Makinen, K, Sebag-Montefiore, L, Medway, D, Neubauer, S   +5 more
openaire   +2 more sources

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man

, 1996
In two children with an accumulation of guanidinoacetate in brain and a deficiency of creatine in blood, a severe deficiency of guanidinoacetate methyltransferase (GAMT) activity was detected in the liver.
Isbrandt, Dirk, Figura, Kurt von, Schmidt, Bernhard, Stockler, Sylvia, Hanefeld, Folker   +4 more
core  

H-1 chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter

, 2005
MR spectroscopy results in a mild case of guanidinoacetate methyltransferase (GAMT) deficiency are presented. The approach differs from previous MRS studies in the acquisition of a chemical shift imaging spectral map showing gray and white matter with ...
Rake, JP, Verbruggen, KT, Meiners, LC, Soorani-Lunsing, RJ, Oudkerk, M, Oudkerk, M; id_orcid, Sijens, PE   +6 more
core   +1 more source

Int J Neonatal Screen [PDF]

Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive genetic disorder which results in global developmental delay and intellectual disability. There is evidence that early treatment prevents intellectual disability and seizures.

core  

Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.

, 2001
This paper reports clinical and metabolic studies of two Italian siblings with a novel form of persistent isolated hypermethioninaemia, i.e. abnormally elevated plasma methionine that lasted beyond the first months of life and is not due to cystathionine
Wagner, C., Allen, R., Fantasia, A.R., Schiaffino, M.C., Cerone, R., Matiaszuk, N., Kotb, M., Watkins, D., Gros, L. Le, Minniti, G., Luka, Z., Schwahn, B., Rozen, R., Capdevila, A., Caruso, U., Lorini, R., Mudd, S.H., Rosenblatt, D.S., Tangerman, A., Stabler, S.P., Finkelstein, J.   +20 more
core   +1 more source

Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy.

, 2007
Contains fulltext : 53723.pdf (Publisher’s version ) (Closed access)Creatine (Cr) levels in skeletal muscle and brain of a mouse model of Cr deficiency caused by guanidinoacetate methyltransferase absence (GAMT-/-) were studied after Cr
Veltien, A.A., Heerschap, A., Isbrandt, D., Andor Veltien, Asten, J.J.A. van, Meeuwissen, E., Esther Meeuwissen, Dirk Isbrandt, Hermien E. Kan, Arend Heerschap, Kan, H.E., Jack J. van Asten   +11 more
core   +1 more source

Issue Information

Epilepsia Open, Volume 10, Issue 4, Page 979-986, August 2025.
wiley   +1 more source

MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.

, 2003
Item does not contain fulltextAs a model for guanidinoacetate methyltransferase (GAMT) deficiency in humans, a gene knockout mouse model was generated. Here we report on several metabolic abnormalities in these mice, observed by in vivo and in vitro MR ...
Heerschap, A., Isbrandt, D., Ullrich, K., Schmidt, A., Asten, J.J.A. van, Wieringa, B., Renema, W.K.J., Oerlemans, F.T.J.J.   +7 more
core   +1 more source