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 the corresponding spectra in one overview. MR spectroscopy revealed guanidinoacetate (GAA) in the absence of creatine. New is that GAA signals are more prominent in gray matter than in white. In the prevailing view, that enzyme deficiency is localized in liver and pancreas and that all GAA is transported into the brain from the blood and the cerebrospinal fluid, this would be compatible with a more limited uptake and/or better clearance of GAA from the white matter compared to the grey matter
For the first time, the use of urine [(1)H] magnetic resonance spectroscopy has allowed the detectio...
Creatine deficiency disorders are inborn errors of creatine metabolism, an energy homeostasis molecu...
Biochemical and developmental results of treatment of a guanidinoacetate methyltransferase (GAMT) de...
MR spectroscopy results in a mild case of guanidinoacetate methyltransferase (GAMT) deficiency are p...
In patients with guanidinoacetate methyltransferase (GAMT) deficiency several parameters may point t...
Guanidinoacetate N-methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder charac...
In patients with guanidinoacetate methyltransferase (GAMT) deficiency several parameters may point t...
As a model for guanidinoacetate methyltransferase (GAMT) deficiency in humans, a gene knockout mouse...
MR spectroscopy in a patient with argininosuccinate lyase deficiency revealed elevated cerebral guan...
Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency c...
Abstract Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited ...
GAMT deficiency is a rare autosomal recessive disease within the group of cerebral creatine deficien...
Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferas...
The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic...
For the first time, the use or urine [H-1] magnetic resonance spectroscopy has allowed the detection...
For the first time, the use of urine [(1)H] magnetic resonance spectroscopy has allowed the detectio...
Creatine deficiency disorders are inborn errors of creatine metabolism, an energy homeostasis molecu...
Biochemical and developmental results of treatment of a guanidinoacetate methyltransferase (GAMT) de...
MR spectroscopy results in a mild case of guanidinoacetate methyltransferase (GAMT) deficiency are p...
In patients with guanidinoacetate methyltransferase (GAMT) deficiency several parameters may point t...
Guanidinoacetate N-methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder charac...
In patients with guanidinoacetate methyltransferase (GAMT) deficiency several parameters may point t...
As a model for guanidinoacetate methyltransferase (GAMT) deficiency in humans, a gene knockout mouse...
MR spectroscopy in a patient with argininosuccinate lyase deficiency revealed elevated cerebral guan...
Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency c...
Abstract Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited ...
GAMT deficiency is a rare autosomal recessive disease within the group of cerebral creatine deficien...
Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferas...
The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic...
For the first time, the use or urine [H-1] magnetic resonance spectroscopy has allowed the detection...
For the first time, the use of urine [(1)H] magnetic resonance spectroscopy has allowed the detectio...
Creatine deficiency disorders are inborn errors of creatine metabolism, an energy homeostasis molecu...
Biochemical and developmental results of treatment of a guanidinoacetate methyltransferase (GAMT) de...