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Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia wit...

Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia wit...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_890678206

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

About this item

Full title

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

Publisher

Dordrecht: Springer Netherlands

Journal title

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.343-347

Language

English

Formats

Publication information

Publisher

Dordrecht: Springer Netherlands

More information

Scope and Contents

Contents

Summary
Citrin deficiency is a common congenital metabolic defect not only in East Asian populations but also in other populations around the world. It has been shown that although liver transplantation is ultimately required in many patients to prevent neurological decompensation associated with hyperammonaemia, arginine is effective in lowerin...

Alternative Titles

Full title

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

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_890678206

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_890678206

Other Identifiers

ISSN

0141-8955

E-ISSN

1573-2665

DOI

10.1007/s10545-008-0914-x

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