(Q84939241)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21914561%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21914561%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

main subject

intrahepatic cholestasis

1 reference

1

1 reference

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12 February 2020

Francesco De Leonardis

4

1 reference

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12 February 2020

Ciro Leonardo Pierri

6

1 reference

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12 February 2020

Francescomassimo Lasorsa

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21914561%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Angelo Vozza

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21914561%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Carlo Dionisi-Vici

11

1 reference

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12 February 2020

3

Diego Martinelli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21914561%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Giovanni Parisi

2

1 reference

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12 February 2020

Giuliano Torre

5

1 reference

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12 February 2020

Alessia Saccari

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21914561%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Ferdinando Palmieri

10

1 reference

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12 February 2020

publication date

25 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21914561%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

12 February 2020

published in

1 reference

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12 February 2020

volume

104

1 reference

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12 February 2020

issue

4

1 reference

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12 February 2020

page(s)

501-506

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21914561%20AND%20SRC:MED&resulttype=core&format=json

The mitochondrial transporter family (SLC25): physiological and pathological implications

12 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

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.2011.08.022

Diseases caused by defects of mitochondrial carriers: a review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Neonatal presentation of adult-onset type II citrullinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Citrin deficiency, a perplexing global disorder.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

An adult with type 2 citrullinemia presenting in Europe

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Mitochondrial metabolite carrier proteins: purification, reconstitution, and transport studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Structure of mitochondrial ADP/ATP carrier in complex with carboxyatractyloside

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Functional and structural role of amino acid residues in the even-numbered transmembrane alpha-helices of the bovine mitochondrial oxoglutarate carrier

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

AutoDock4 and AutoDockTools4: Automated docking with selective receptor flexibility

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Q-SiteFinder: an energy-based method for the prediction of protein-ligand binding sites.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Mitochondrial carriers in the cytoplasmic state have a common substrate binding site

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Structure and function of mitochondrial carriers - role of the transmembrane helix P and G residues in the gating and transport mechanism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Mitochondrial metabolite transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

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.2011.08.022

Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

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.2011.08.022

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.2011.08.022

Evolution, structure and function of mitochondrial carriers: a review with new insights

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

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.2011.08.022

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.2011.08.022

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.022

10.1016/J.YMGME.2011.08.022

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21914561%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference