Results 121 to 130 of about 1,686 (146)

Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA

Biochimica Et Biophysica Acta Gene Regulatory Mechanisms, 1995
In a child with severe muscular hypotonia and extrapyramidal movement disorder, elevation of guanidinoacetate and deficiency of creatine in brain suggested a defect in biosynthesis of creatine at the level of guanidinoacetate methyltransferase (GAMT) (Stöckler, S. et al. (1994) Pediatr. Res. 36, 409-413).
Dirk Isbrandt, K Von Figura
exaly   +3 more sources

Guanidinoacetate Methyltransferase Deficiency

FIRE Forum for International Research in Education, 2016
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited disorder of the metabolism of creatine that leads to depleted levels of creatine and excessive concentrations of guanidinoacetate (GAA).
Angela T S Wyse
exaly   +2 more sources

Crystallization and preliminary X-ray diffraction studies of guanidinoacetate methyltransferase from rat liver [PDF]

Acta Crystallographica Section D: Biological Crystallography, 1999
This is the publisher's version, also available electronically from http://scripts.iucr.org/cgi-bin/paper?S0907444999010318.Guanidinoacetate methyltransferase is the enzyme which catalyzes the last step of creatine biosynthesis.
Junichi Komoto, Yafei Huang, Yongbo Hu   +2 more
exaly   +2 more sources

Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology

Molecular Genetics and Metabolism, 2007
Biochemical and developmental results of treatment of a guanidinoacetate methyltransferase (GAMT) deficient patient with a mild clinical presentation and remarkable developmental improvement after treatment are presented.
Paul E Sijens, Andreas Schulze
exaly   +2 more sources

Guanidinoacetate N-methyltransferase

, 1996
Dietmar Schomburg, Dörte Stephan
openaire   +2 more sources

Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation

Brain and Development, 2020
We describe the first child with guanidinoacetate methyltransferase (GAMT) deficiency who developed neuroleptic malignant syndrome (NMS) after the treatment of risperidone without elevated creatine kinase (CK) levels. The patient presented with lethargy,
Taner Sezer, Halil Ibrahim Aydi̇N
exaly   +2 more sources

Guanidinoacetate N-methyltransferase

, 2008
openaire   +2 more sources

Monoclinic guanidinoacetate methyltransferase and gadolinium ion-binding characteristics

Acta Crystallographica Section D: Biological Crystallography, 2003
This is the publisher's version, also available electronically from http://scripts.iucr.org/cgi-bin/paper?S0907444903014719.Guanidinoacetate methyltransferase (GAMT) is the enzyme that catalyzes the last step of creatine biosynthesis. The enzyme is found
Junichi Komoto, Yoshimi Takata, Kiyoshi Konishi   +2 more
exaly   +2 more sources

Assay for S-adenosylmethionine: Guanidinoacetate N-methyltransferase activities of rat liver homogenates

Analytical Biochemistry, 1970
Abstract An assay for S-adenosylmethionine: guanidinoacetate N-methyltransferase ∗ activities in tissue homogenates has been developed. The creatine formed is converted to methylguanidine by o-nitrobenzaldehyde and the methylguanidine separated from guanidinoacetic acid by ion-exchange chromatography.
J F, Van Pilsum, M, Carlson
openaire   +2 more sources

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

, 2005
Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism.
Helena Caldeira Araujo, N M Verhoeven, G S Salomons   +2 more
exaly   +2 more sources