(Q44268350)

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

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1 December 2017

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

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1 December 2017

Matthias R Baumgartner

5

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1 December 2017

Filippo Maria Santorelli

24

object named as

Filippo M Santorelli

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1 December 2017

Gioacchino Scarano

16

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Gioacchino Scarano

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1 December 2017

author name string

Alessandra Tessa

1

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1 December 2017

Giuseppe Fiermonte

2

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1 December 2017

Carlo Dionisi-Vici

3

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1 December 2017

Eleonora Paradies

4

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1 December 2017

Yin-Hsiu Chien

6

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1 December 2017

Carmela Loguercio

7

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1 December 2017

Helene Ogier de Baulny

8

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1 December 2017

Marie-Cecile Nassogne

9

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1 December 2017

Manuel Schiff

10

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1 December 2017

Federica Deodato

11

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1 December 2017

Giancarlo Parenti

12

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1 December 2017

S Lane Rutledge

13

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1 December 2017

M Antonia Vilaseca

14

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1 December 2017

Mariarosa A B Melone

15

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1 December 2017

Luiz Aldamiz-Echevarría

17

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1 December 2017

Guy Besley

18

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1 December 2017

John Walter

19

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1 December 2017

Eugenia Martinez-Hernandez

20

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1 December 2017

Jose M Hernandez

21

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1 December 2017

Ciro L Pierri

22

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1 December 2017

Ferdinando Palmieri

23

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1 December 2017

publication date

1 May 2009

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1 December 2017

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1 December 2017

30

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1 December 2017

5

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1 December 2017

741-748

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1 December 2017

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis

1 reference

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21 January 2018

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

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Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

1 reference

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21 January 2018

Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder

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21 January 2018

Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

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21 January 2018

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

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

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Functional characterization of residues within the carnitine/acylcarnitine translocase RX2PANAAXF distinct motif

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Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement

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21 January 2018

The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms

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21 January 2018

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Associated with Decreased Carbamyl Phosphate Synthetase I Activity

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family

1 reference

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21 January 2018

Unreliability of the Chou-Fasman parameters in predicting protein secondary structure

1 reference

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21 January 2018

Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Diseases caused by defects of mitochondrial carriers: a review

1 reference

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21 January 2018

Structure of mitochondrial ADP/ATP carrier in complex with carboxyatractyloside

1 reference

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21 January 2018

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

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21 January 2018

Human mtDNA haplogroups associated with high or reduced spermatozoa motility

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21 January 2018

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

1 reference

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21 January 2018

Identification by site-directed mutagenesis and chemical modification of three vicinal cysteine residues in rat mitochondrial carnitine/acylcarnitine transporter

1 reference

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21 January 2018

WHAT IF: a molecular modeling and drug design program

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21 January 2018

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Abundant bacterial expression and reconstitution of an intrinsic membrane-transport protein from bovine mitochondria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20930

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression in Escherichia coli, functional characterization, and tissue distribution of isoforms A and B of the phosphate carrier from bovine mitochondria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20930

7 January 2021

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inferred from DOI database lookup

Guanidino Compound Analysis as a Complementary Diagnostic Parameter for Hyperargininemia: Follow-Up of Guanidino Compound Levels during Therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20930

7 January 2021

based on heuristic

inferred from DOI database lookup

Substrate-induced conformational changes of the mitochondrial oxoglutarate carrier: a spectroscopic and molecular modelling study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20930

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20930

7 January 2021

based on heuristic

inferred from DOI database lookup

Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria)

1 reference

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Identifiers

10.1002/HUMU.20930

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

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