Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle (Q28253311)

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English	Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle	scientific article

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26 December 2019

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Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle (English)

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26 December 2019

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citrullinemia type II

1 reference

based on heuristic

inferred from title

neonatal hemochromatosis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

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Mitsuaki Moriyama

11

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26 December 2019

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Takeyori Saheki

1

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26 December 2019

Keiko Kobayashi

2

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26 December 2019

Mikio Iijima

3

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26 December 2019

Masahisa Horiuchi

4

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26 December 2019

Laila Begum

5

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26 December 2019

Md Abdul Jalil

6

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26 December 2019

Meng Xian Li

7

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26 December 2019

Yao Bang Lu

8

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26 December 2019

Miharu Ushikai

9

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26 December 2019

Ayako Tabata

10

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26 December 2019

Kwang-Jen Hsiao

12

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26 December 2019

Yanling Yang

13

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26 December 2019

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1 April 2004

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26 December 2019

Molecular Genetics and Metabolism

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26 December 2019

81 Suppl 1

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26 December 2019

S20-6

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26 December 2019

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Neonatal presentation of adult-onset type II citrullinemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Generation of extramitochondrial reducing power in gluconeogenesis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Impaired ketogenesis in patients with adult-type citrullinemia.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Electrophilic methyl groups present in the diet ameliorate pathological states induced by reductive and oxidative stress: a hypothesis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Effect of single oral dose of sodium benzoate on ureagenesis in healthy men and two patients with late onset citrullinaemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Treatment of adult-type citrullinemia with administration of citrate

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Successful treatment of severe hyperammonemia using sodium phenylacetate powder prepared in hospital pharmacy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Orthotopic liver transplantation for urea cycle enzyme deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

Recovery from marked altered consciousness in a patient with adult-onset type II citrullinemia diagnosed by DNA analysis and treated with a living related partial liver transplantation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Reversibility of serum NH3 level in a case of sudden onset and rapidly progressive case of type 2 citrullinemia.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.006

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/J.YMGME.2004.01.006

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15050970%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15050970%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

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