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phenylacetate/seizures

Odkaz je uložen do schránky
15 Výsledek
A study of the effect of (+/-)-4-diethylamino-1,1-dimethylbut-2-yn-1-yl 2-cyclohexyl-2-hydroxy-2-phenylacetate monohydrochloride monohydrate (NS-21), a new drug for the treatment of urinary frequency and incontinence, was conducted in New Zealand White rabbits during the period of fetal
Comparative single-dose toxicity studies of (+/-)-4-diethylamino-1,1-dimethylbut-2-yn-1-yl 2-cyclohexyl-2-hydroxy-2-phenylacetate monohydrochloride monohydrate(NS-21), a new drug for the treatment of urinary frequency and incontinence, were conducted in ddY mice and Sprague-Dawley rats after
Oral single-dose and 13-week repeat-dose toxicity studies of (+/-)-4-ethylamino-1, 1-dimethylbut-2-yn-1-yl 2-cyclohexyl-2-hydroxy-2-phenylacetate monohydrochloride (RCC-36), an active metabolite of (+/-)-4-diethylamino-1,1-dimethylbut-2-yn-1-yl 2-cyclohexyl-2-hydroxy-2-phenylacetate

Cortical dendritic spine loss in rat pups whose mothers were prenatally injected with phenylacetate ('maternal PKU' model).

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Přihlášení Registrace
Pregnant rats injected with phenylacetate produced pups who had structurally abnormal cortical pyramidal cell dendrites. Neurons whose perikarya were in layer 5 had apical dendritic arbors with reduced numbers of dendritic spines which were longer and thinner than controls. Pyramidal cells of other
NS-21, (+/-)-4-diethylamino-1,1-dimethylbut-2-yn-1-yl 2-cyclohexyl-2-hydroxy-2-phenylacetate monohydrochloride monohydrate, is a new drug for the treatment of urinary frequency and incontinence. To evaluate acute toxicities of its related compounds including the optical isomers of NS-21 ((S)NS-21

Orthotopic liver transplantation in a patient with carbamyl phosphate synthetase deficiency and cystic fibrosis.

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Přihlášení Registrace
A 15-year-old female with carbamyl phosphate synthetase deficiency, cystic fibrosis, and cystic fibrosis-related diabetes underwent orthotopic cadaveric liver transplantation. Metabolic control was maintained during the procedure with nutritional support and the use of intravenous sodium

The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism.

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Přihlášení Registrace
BACKGROUND Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the

Arginase Deficiency

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Přihlášení Registrace
Clinical characteristics: Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal.

Acute liver failure following cleft palate repair: a case of therapeutic acetaminophen toxicity.

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Přihlášení Registrace
Background : Acetaminophen is a widely used analgesic and antipyretic agent in the pediatric population. While the hepatotoxic effects of the drug have been well recognized in cases of acute overdose and chronic supratherapeutic doses, the toxic effects of acetaminophen are rarely documented in

Ornithine transcarbamylase deficiency: pathogenesis of the cerebral disorder and new prospects for therapy.

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Přihlášení Registrace
Ornithine Transcarbamylase (OTC) is a key urea cycle enzyme. Congenital OTC deficiencies in humans result in hyperammonemia and a spectrum of neurological symptoms including hypotonia, seizures and mental retardation. Neuropathologic evaluation reveals cerebral atrophy, ventricular enlargement and

Evidence for a central cholinergic deficit in congenital ornithine transcarbamylase deficiency.

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Přihlášení Registrace
Congenital ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle enzymes in humans. A large percentage of survivors of neonatal OTC deficiency suffer severe developmental disorders, including seizures, mental retardation and cerebral palsy. Neuropathological

Phase II study of antineoplastons A10 (NSC 648539) and AS2-1 (NSC 620261) in patients with recurrent glioma.

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Přihlášení Registrace
OBJECTIVE To assess the pharmacokinetics, toxicity, and efficacy of antineoplastons A10 (NSC 648539) and AS2-1 (NSC 620261). METHODS We initiated a phase II trial in order to determine whether evidence of antitumor activity of A10 and AS2-1 could be documented. METHODS Patients with anaplastic

Electroencephalographic findings in ornithine transcarbamylase deficiency.

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Přihlášení Registrace
A 3-day-old infant presented with anorexia, irritability, hypotonia, and seizures. Blood ammonia was 2115 micromol/L and amino and organic acid analyses were consistent with ornithine transcarbamylase deficiency. Liver biopsy confirmed only 1% enzyme activity. The patient was treated with

Successful use of alternate waste nitrogen agents and hemodialysis in a patient with hyperammonemic coma after heart-lung transplantation.

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Přihlášení Registrace
BACKGROUND Lethal hyperammonemic coma has been reported in 2 adults after lung transplantation. It was associated with a massive elevation of brain glutamine levels, while plasma glutamine levels were normal or only slightly elevated. In liver tissue, glutamine synthetase activity was markedly

Peripartum management of two parturients with ornithine transcarbamylase deficiency.

Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
Ornithine transcarbamylase deficiency is a rare X-linked disorder in which female carriers are usually heterozygous for the ornithine transcarbamylase deficiency gene. In pregnancy it has been associated with altered mental status, seizures, coma and death, especially in the postpartum period. We
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