Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1. (Q30412384)

22 September 2017

Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1. (English)

1 reference

22 September 2017

1

Jing-Fang Wang

1 reference

22 September 2017

2

Kuo-Chen Chou

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PMC publication ID

3266937

22 September 2017

language of work or name

English

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publication date

26 January 2012

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22 September 2017

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22 September 2017

7

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22 September 2017

1

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22 September 2017

e31048

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Creative Commons Attribution 4.0 International

22 September 2017

start time

26 January 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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

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Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy

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Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

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Anesthesia for a patient with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

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10.1371/JOURNAL.PONE.0031048

Identifiers

DOI

1 reference

22 September 2017

0 references

1 reference

PMC publication ID

3266937

22 September 2017

PubMed publication ID

22292090

1 reference

PMC publication ID

3266937