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Citrin Deficiency: Clinical and Nutritional Features

Citrin Deficiency: Clinical and Nutritional Features

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10224054

Citrin Deficiency: Clinical and Nutritional Features

About this item

Full title

Citrin Deficiency: Clinical and Nutritional Features

Publisher

Switzerland: MDPI AG

Journal title

Nutrients, 2023-05, Vol.15 (10), p.2284

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

SLC25A13 gene mutations are responsible for diseases related to citrin deficiency (CD), such as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset type II citrullinemia (CTLN2). From childhood to adulthood, CD patients are apparently healthy due to metabolic compensation with peculiar dietary habits—disliking high-carbohy...

Alternative Titles

Full title

Citrin Deficiency: Clinical and Nutritional Features

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10224054

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10224054

Other Identifiers

ISSN

2072-6643

E-ISSN

2072-6643

DOI

10.3390/nu15102284

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