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Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106...

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5579154

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

About this item

Full title

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Publisher

Dordrecht: Springer Netherlands

Journal title

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.685-693

Language

English

Formats

Publication information

Publisher

Dordrecht: Springer Netherlands

More information

Scope and Contents

Contents

Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling mitochondrial respiratory chain (MRC) dysfunction behind LS is essential for deeper understanding of...

Alternative Titles

Full title

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5579154

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5579154

Other Identifiers

ISSN

0141-8955

E-ISSN

1573-2665

DOI

10.1007/s10545-017-0042-6

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