(Q28211692)

2

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Mikio Iijima

3

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Ikumi Nishi

4

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Tomotsugu Yasuda

5

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Naoki Yamaguchi

6

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Hong Zhi Gao

7

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Md Abdul Jalil

8

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Laila Begum

9

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Meng Xian Li

Citrullinemia, Report of a Case, with Studies on Antenatal Diagnosis

10

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language of work or name

English

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publication date

December 2002

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published in

Metabolic Brain Disease

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volume

17

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issue

4

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page(s)

335-46

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cites work

1 reference

12 December 2020

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

1 reference

12 December 2020

A search for the primary abnormality in adult-onset type II citrullinemia.

1 reference

12 December 2020

Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin

1 reference

12 December 2020

Enzymatic analysis of citrullinemia (12 cases) in Japan

1 reference

12 December 2020

Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia

1 reference

12 December 2020

Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan

1 reference

12 December 2020

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

1 reference

12 December 2020

Role of argininosuccinate synthetase in the regulation of urea synthesis in the rat and argininosuccinate synthetase-associated metabolic disorder in man

1 reference

12 December 2020

Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients

1 reference

12 December 2020

The enzymic interconversion of uridine diphosphogalactose and uridine diphosphoglucose

1 reference

12 December 2020

Orthotopic liver transplantation for urea cycle enzyme deficiency

1 reference

12 December 2020

Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia

1 reference

12 December 2020

Orthotopic liver transplantation for adult-onset type II citrullinaemia.

1 reference

12 December 2020

Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues

1 reference

12 December 2020

A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene

1 reference

12 December 2020

Identification and purification of the aspartate/glutamate carrier from bovine heart mitochondria

1 reference

12 December 2020

Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia

1 reference

12 December 2020

The transport of L-cysteinesulfinate in rat liver mitochondria

1 reference

12 December 2020

Additional mutations in argininosuccinate synthetase causing citrullinemia

1 reference

12 December 2020

Clinical application of enzyme immunoassay in the analysis of citrullinemia

1 reference

12 December 2020

Neonatal presentation of adult-onset type II citrullinemia

1 reference

12 December 2020

Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels

1 reference

12 December 2020

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia

1 reference

12 December 2020

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

1 reference

12 December 2020

Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia

1 reference

12 December 2020

Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation

1 reference

12 December 2020

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

1 reference

12 December 2020

Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation

1 reference

12 December 2020

Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia

1 reference

12 December 2020

Asymmetric orientation of the reconstituted aspartate/glutamate carrier from mitochondria

1 reference

12 December 2020

Metabolite Transport in Mitochondria

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.

1 reference

12 December 2020

The Heterogeneous Distribution of Argininosuccinate Synthetase in the Liver of Type II Citrullinemic Patients: Its Specificity and Possible Clinical Implications

1 reference

12 December 2020

Increased urinary excretion of argininosuccinate in type II citrullinemia

1 reference

12 December 2020

Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy

1 reference

12 December 2020

Phenotype and genotype heterogeneity in Mediterranean citrullinemia

1 reference

12 December 2020

1 reference

12 December 2020

Messenger RNA coding for argininosuccinate synthetase in citrullinemia

1 reference

12 December 2020

Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia

1 reference

12 December 2020

Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria

1 reference

12 December 2020

Case report: recurrent hyperammonaemic encephalopathy due to citrullinaemia in a 52 year old man.

1 reference

12 December 2020

Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain

1 reference

12 December 2020

Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24

1 reference

12 December 2020

Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria

1 reference

12 December 2020

High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia

1 reference

12 December 2020

Mutations and DNA diagnoses of classical citrullinemia

1 reference

12 December 2020

Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.

1 reference

12 December 2020

Diurnal fluctuation of blood ammonia levels in adult-type citrullinemia.

1 reference

12 December 2020