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The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4358699

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

About this item

Full title

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Publisher

England: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2015-03, Vol.10 (1), p.29-29, Article 29

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan. Acute clinical signs include intermittent episodes of vomiting, confusion or coma and hepatitis-like attacks. Alternatively, patients show a...

Alternative Titles

Full title

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4358699

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4358699

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-015-0242-9

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