(Q46226551)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19036621%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Citrin deficiency, a perplexing global disorder (English)

1 reference

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17 January 2020

1

1 reference

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17 January 2020

Carlo Dionisi-Vici

3

1 reference

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17 January 2020

Giuseppe Fiermonte

6

1 reference

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17 January 2020

author name string

Bruno Maranda

2

1 reference

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17 January 2020

Jing Wang

4

1 reference

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17 January 2020

Soledad Kleppe

5

1 reference

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17 January 2020

Renkui Bai

7

1 reference

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17 January 2020

Bryan Hainline

8

1 reference

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17 January 2020

William E O'Brien

10

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17 January 2020

Fernando Scaglia

11

1 reference

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17 January 2020

Lee-Jun Wong

12

1 reference

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17 January 2020

Ada Hamosh

9

1 reference

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17 January 2020

publication date

25 November 2008

1 reference

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Molecular Genetics and Metabolism

17 January 2020

published in

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17 January 2020

volume

96

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17 January 2020

issue

1

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17 January 2020

page(s)

44-49

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

17 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

An adult with type 2 citrullinemia presenting in Europe

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Prenatal diagnosis of citrullinaemia: review of a 10-year experience including recent use of DNA analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Predicting the effects of amino acid substitutions on protein function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Human non-synonymous SNPs: server and survey

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Regulation of endothelial argininosuccinate synthase expression and NO production by an upstream open reading frame

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

An NADPH sensor protein (HSCARG) down-regulates nitric oxide synthesis by association with argininosuccinate synthetase and is essential for epithelial cell viability

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.10.007