citrullinemia/tyrosine

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5 matokeo

Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.

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Ingia / Ingia

Deficiency of citrin due to mutations of the SLC25A13 gene causes adult-onset type II citrullinemia (CTLN2) and one type of neonatal intrahepatic cholestasis (NICCD). About half of the NICCD patients are detected based on high galactose, phenylalanine, and/or methionine concentrations on newborn

A GC/MS-based metabolomic approach for diagnosing citrin deficiency.

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Ingia / Ingia

Citrin is the hepatic mitochondrial aspartate-glutamate carrier that is encoded by the gene SLC25A13. Citrin deficiency often leads to hyperammonemia, for which the current treatment concept is different from that for primary hyperammonemias. Metabolite level diagnosis, often referred to as chemical

Biochemical and molecular characteristics of citrin deficiency in Korean children.

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Ingia / Ingia

Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2). The purpose of this study was to

Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier.

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Ingia / Ingia

Citrin, encoded by SLC25A13, is a liver-type mitochondrial aspartate-glutamate carrier (AGC), of which deficiency, in autosomal recessive trait, causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). NICCD patients have jaundice, hypoproteinemia,

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

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Ingia / Ingia

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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Herbal & Natural Medicine

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