ornithine carbamoyltransferase deficiency disease/tyrosine

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Reduced citrulline availability by OTC deficiency in mice is related to reduced nitric oxide production.

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Logi sisse

The amino acid arginine is the sole precursor for nitric oxide (NO) synthesis. We recently demonstrated that an acute reduction of circulating arginine does not compromise basal or LPS-inducible NO production in mice. In the present study, we investigated the importance of citrulline availability in

Aminograms during continuous hemodiafiltration in the treatment of hyperammonemia due to ornithine transcarbamylase deficiency.

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Logi sisse

BACKGROUND Hyperammonemia caused by ornithine transcarbamylase (OTC) deficiency can be properly managed by continuous arteriovenous hemodiafiltration (CAVHDF). Removal of amino acids (AA) during CAVHDF has not been thoroughly investigated. AA losses in patients with urea cycle defects due to

Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency.

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Logi sisse

We aim to analyze the blood metabolic profiling and the gene mutation of ornithine transcarbamylase (OTC) in three neonates with ornithine transcarbamylase deficiency (OTCD). Three neonates with OTCD were included in this study. The profiling of amino acids and acylcarnitine was determined using

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.

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Logi sisse

Ornithine transcarbamylase (OTC) deficiency, an X-linked inborn error of the urea cycle, is known to be heterogeneous genetically as well as phenotypically. Molecular defects of Korean patients with OTC deficiency have not been reported. To investigate molecular lesions resulting in OTC deficiency,

AP2 adaptor complex mediates bile salt export pump internalization and modulates its hepatocanalicular expression and transport function.

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Logi sisse

The bile salt export pump (BSEP) mediates the biliary excretion of bile salts and its dysfunction induces intrahepatic cholestasis. Reduced canalicular expression of BSEP resulting from the promotion of its internalization is one of the causes of this disease state. However, the molecular mechanism

Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation.

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Logi sisse

Urea cycle disorders (UCDs) result from inherited defects in the ammonia detoxification pathway, leading to episodes of hyperammonaemia and encephalopathy. The purpose of this study was to answer the question, "what is the likely plasma amino acid profile of a patient known to have a UCD presenting

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