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Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6041144

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

About this item

Full title

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Publisher

Dordrecht: Springer Netherlands

Journal title

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.657-667

Language

English

Formats

Publication information

Publisher

Dordrecht: Springer Netherlands

More information

Scope and Contents

Contents

Urea cycle disorders often present as devastating metabolic conditions, resulting in high mortality and significant neuropsychological damage, despite treatment. The Urea Cycle Disorders Longitudinal Study is a natural history study that collects data from regular clinical follow-up and neuropsychological testing. This report examines links between...

Alternative Titles

Full title

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6041144

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6041144

Other Identifiers

ISSN

0141-8955

E-ISSN

1573-2665

DOI

10.1007/s10545-017-0132-5

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