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6 resultater
"Cerebral Palsy" in a Patient With Arginase Deficiency.
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Inborn errors of metabolism (IEMs) are thought to present in infancy with acute decompensation including feeding intolerance and vomiting, lethargy, and coma. Most practitioners assume that children will be diagnosed in their first months of life. However, certain IEMs present more insidiously, and
Clinical and biochemical studies on periodic hyperammonemia with hyperlysinemia and homocitrullinuria.
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An 18-year-old mentally and physically retarded boy, suffering from episodes of anorexia, vomiting, coma and convulsion which have been severer with advance in age, had periodic hyperammonemia, hyperlysinemia and homocitrullinuria. Blood cell arginase activity of the patient on normal diet was
[Late diagnosis of congenital argininemia during administration of sodium valproate].
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Congenital hyperargininaemia is a rare condition transmitted as an autosomal dominant trait. Following a one-year free interval, repeated vomiting, psychomotor regression and spastic paraparesis with talipes equinus progressively develop. The diagnosis, confirmed by arginine assays in blood and
Antagonism of arginine by excess dietary lysine in the growing dog.
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Experiments were conducted with growing English Pointer puppies to examine the effects of ingesting excess lysine. A purified crystalline amino acid basal diet containing 0.40% L-arginine (the arginine requirement for maximal weight gain) and 0.91% L-lysine was fed in all assays. All diets were kept
FCPR16, a novel phosphodiesterase 4 inhibitor, produces an antidepressant-like effect in mice exposed to chronic unpredictable mild stress.
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The canonical phosphodiesterase 4 (PDE4) inhibitors produce antidepressant-like effects in a variety of animal models. However, severe side effects, particularly vomiting and nausea, limit their clinical application. FCPR16 is a novel PDE4 inhibitor with less vomiting potential. However, whether it
The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.
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Glucagon receptor (GCGR) defect (Mahvash disease) is an autosomal recessive hereditary pancreatic neuroendocrine tumor (PNET) syndrome that has only been reported in adults with pancreatic α cell hyperplasia and PNETs. We describe a 7-year-old girl with persistent hyperaminoacidemia, notable for
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