Log in to save to my catalogue

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_847435290

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

About this item

Full title

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

Publisher

Dordrecht: Dordrecht : Springer Netherlands

Journal title

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.197-201

Language

English

Formats

Publication information

Publisher

Dordrecht: Dordrecht : Springer Netherlands

More information

Scope and Contents

Contents

Combined respiratory chain deficiency accounts for about 30% of mitochondrial respiratory chain deficiencies and is frequently associated with mtDNA depletion, deletions or point mutations. However combined respiratory chain deficiency may also be caused by mutations in nuclear genes affecting mitochondrial translation. Here we describe a 2-year-ol...

Alternative Titles

Full title

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_847435290

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_847435290

Other Identifiers

ISSN

0141-8955

E-ISSN

1573-2665

DOI

10.1007/s10545-010-9250-z

How to access this item