(Q46114710)

English

Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period

scientific article published on 25 January 2009

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scholarly article

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Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19232506

Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period (English)

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19 December 2017

http://europepmc.org/abstract/MED/19232506

hypercholesterolemia

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7

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http://europepmc.org/abstract/MED/19232506

author name string

Hironori Nagasaka

1

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http://europepmc.org/abstract/MED/19232506

Yoshiyuki Okano

2

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http://europepmc.org/abstract/MED/19232506

Hirokazu Tsukahara

3

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19 December 2017

http://europepmc.org/abstract/MED/19232506

Yosuke Shigematsu

4

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19 December 2017

http://europepmc.org/abstract/MED/19232506

Toru Momoi

5

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http://europepmc.org/abstract/MED/19232506

Junko Yorifuji

6

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http://europepmc.org/abstract/MED/19232506

Toshihiro Ohura

8

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http://europepmc.org/abstract/MED/19232506

Keiko Kobayashi

9

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http://europepmc.org/abstract/MED/19232506

Takeyori Saheki

10

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http://europepmc.org/abstract/MED/19232506

Kenichi Hirano

11

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19 December 2017

http://europepmc.org/abstract/MED/19232506

Masaki Takayanagi

12

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http://europepmc.org/abstract/MED/19232506

Tohru Yorifuji

13

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http://europepmc.org/abstract/MED/19232506

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25 January 2009

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19 December 2017

http://europepmc.org/abstract/MED/19232506

Molecular Genetics and Metabolism

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http://europepmc.org/abstract/MED/19232506

97

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21-26

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1

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Diseases caused by defects of mitochondrial carriers: a review

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.009

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.2009.01.009

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.2009.01.009

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.2009.01.009

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.2009.01.009

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

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7 January 2021

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

1 reference

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7 January 2021

Citrin deficiency, a perplexing global disorder.

1 reference

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7 January 2021

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

1 reference

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7 January 2021

Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet

1 reference

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7 January 2021

Arginine metabolic enzymes, nitric oxide and infection

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7 January 2021

The discovery of nitric oxide and its role in vascular biology

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7 January 2021

Determination of asymmetric dimethylarginine, an endogenous nitric oxide synthase inhibitor, in umbilical blood

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7 January 2021

Spurious elevation of serum high-density lipoprotein cholesterol in patients with cholestatic liver diseases

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7 January 2021

Distribution of immunoreactive malondialdehyde-modified low-density lipoprotein in human serum

1 reference

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7 January 2021

Evaluation of a urinary multi-parameter biomarker set for oxidative stress in children, adolescents and young adults

1 reference

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7 January 2021

A simple and rapid HPLC method for simultaneous determination of plasma 7-dehydrocholesterol and vitamin E: its application in Smith-Lemli-Opitz patients

1 reference

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7 January 2021

Properties of erythrocyte catalase from homozygotes and heterozygotes for Swiss-type acatalasemia

1 reference

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7 January 2021

The metabolism of lactate

1 reference

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7 January 2021

Reduced carbohydrate intake in citrin-deficient subjects

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.009

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

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7 January 2021

Nitric oxide synthesis in ornithine transcarbamylase deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defect

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7 January 2021

In vivo role of NAD(P)H:quinone oxidoreductase 1 (NQO1) in the regulation of intracellular redox state and accumulation of abdominal adipose tissue

1 reference

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7 January 2021

Contribution of de novo fatty acid synthesis to hepatic steatosis and insulin resistance: lessons from genetically engineered mice

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Modulating hypoxia-induced hepatocyte injury by affecting intracellular redox state.

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7 January 2021

Nonalcoholic fatty liver disease and the metabolic syndrome

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7 January 2021

Identifiers

10.1016/J.YMGME.2009.01.009

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19232506

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19232506

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