citrin/fibrosis

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Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child.

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Prijava / prijava

Citrin deficiency manifests as both neonatal intrahepatic cholestasis (NICCD) during early infancy and adult-onset type II citrullinemia during adulthood. Hepatic steatosis is most frequently observed in patients with citrin deficiency. Thus, non-alcoholic fatty liver disease that is unrelated to

Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband.

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Prijava / prijava

Citrin deficiency (CD) is an autosomal recessive disorder with SLC25A13 as causative gene that encodes citrin, the liver-type aspartate/glutamate carrier isoform 2 (AGC2). Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), the major CD phenotype at pediatric age, has been

A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?

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Prijava / prijava

Citrin deficiency initially presents as neonatal intrahepatic cholestasis (NICCD) and often resolves within first year of infancy. Failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) has been recently proposed as a novel post-NICCD phenotype and its clinical features are still

Liver fibrosis in an extremely small infant for gestational age.

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Prijava / prijava

Premature infants with intrauterine growth restriction (IUGR) are at greater risk for an adverse perinatal outcome. IUGR affects hepatocyte function, but the histopathological changes in the postnatal liver are not well known. We report a male infant with severe IUGR. His mother was transferred to

[Neonatal intrahepatic cholestasis caused by citrin deficiency: a histopathologic study of 10 cases].

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Prijava / prijava

OBJECTIVE To investigate the diagnostic value of histopathological changes in the liver of patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS Liver specimens from 10 cases of NICCD were evaluated by hematoxylin-eosin stain, histochemistry and

Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency.

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Prijava / prijava

OBJECTIVE To characterize the histological features of the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), we studied specimens from 30 patients diagnosed with NICCD by genetically analyzing the SLC25A13 gene. METHODS Liver biopsy specimens were

Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma.

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Prijava / prijava

Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. CTLN2 is associated with a high incidence of hepatocellular

[Adult-onset citrullinemia].

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Prijava / prijava

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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Prijava / prijava

[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].

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Prijava / prijava

Infantile liver failure syndrome type 1 (ILFS1) is a Mendelian disease due to biallelic mutations in the cytoplasmic leucyl-tRNA synthetase gene (LARS). This study aimed to report the clinical and molecular features of the first non-caucasian ILFS1 patient, providing reliable evidences for the

Liver involvement in urea cycle disorders: a review of the literature.

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Prijava / prijava

Urea cycle disorders (UCDs) are inborn errors of metabolism of the nitrogen detoxification pathway and encompass six principal enzymatic deficiencies. The aging of UCD patients leads to a better knowledge of the long-term natural history of the condition and to the reporting of previously unnoticed

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