citrin/tambazi

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12 matokeo

[Treatment and Pathomechanism of Citrin Deficiency].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Citrin, encoded by SLC25A13, is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), which usually resolves within the first year of life. However, a small number of adults with

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

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Ingia / Ingia

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has two disease outcomes: adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency. The clinical appearance of these diseases is variable, ranging from almost

Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

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Ingia / Ingia

Classical galactosemia is an autosomal recessive disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. Undoubtedly, some of the short term complications are linked to the toxic effects of the accumulated abnormal metabolites (galactose-1-phosphate and galactitol).

Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2).

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Ingia / Ingia

OBJECTIVE We report a risk of worsening of encephalopathy by glycerol infusion when this osmotic agent is used for the treatment of brain edema in patients with adult-onset type II citrullinemia (CTLN2) caused by citrin deficiency. METHODS We performed a retrospective investigation of 3 patients

IVC angioplasty using an autologous vascular graft for IVC stenosis due to metallic stent in a pediatric liver transplant.

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Ingia / Ingia

A 12-year-old girl underwent LDLT using a left lobe graft for hepatic dysfunction associated with citrin deficiency. A continuous anastomosis suture technique was performed between the recipient's IVC and the donor's left hepatic vein. At age 14, the patient developed intractable ascites. Venography

[Giant ovarian cyst extraction by means of minilaparotomy: hourglass technique].

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Ingia / Ingia

We report a case of a giant ovarian cyst and its removal by means of a newly and low morbid technique. It's about a 40 years-old female with intervascular closing cardiovascular surgery history, 25 years before, and one pregnancy and one delivery. She has two years development of middle effort

A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions.

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Ingia / Ingia

BACKGROUND Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disorder caused by mutations of SLC25A13 gene encoding citrin and is characterized by recurrent encephalopathy with hyperammonemia. Factors affecting disease progression remain unknown. We report a case with CTLN2, whose

Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

BACKGROUND Citrin, encoded by SLC25A13, is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), which usually resolves within the first year of life. However, small numbers of adults

[Adult-onset citrullinemia].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Adult-onset citrullinemia (CTLN2) is a rare hereditary metabolic disorder characterized by highly increased concentration of citrulline and ammonia in the plasma, which is ascribed to a deficiency of argininosuccinate synthetase (ASS), one of the urea cycle enzymes mainly located in the liver.

[Adult-onset citrullinemia].

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Ingia / Ingia

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a liver-specific ASS deficiency with no abnormalities in hepatic ASS mRNA or the gene ASS (refs 1-17). CTLN2 patients

Ammonia metabolism and hyperammonemic disorders.

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Ingia / Ingia

Human adults produce around 1000 mmol of ammonia daily. Some is reutilized in biosynthesis. The remainder is waste and neurotoxic. Eventually most is excreted in urine as urea, together with ammonia used as a buffer. In extrahepatic tissues, ammonia is incorporated into nontoxic glutamine and

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