P56Challenges in rare diseases diagnostic: aicardi-goutieres syndrome - a case report
P56Challenges in rare diseases diagnostic: aicardi-goutieres syndrome - a case report
About this item
Full title
P56Challenges in rare diseases diagnostic: aicardi-goutieres syndrome - a case report
Author / Creator
Journal title
Archives of disease in childhood, 2017-06, Vol.102 (Suppl 2), p.A55-A56
Language
English
Formats
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Scope and Contents
Contents
Background and AimIn Europe, rare diseases are considered the pathologies that affect fewer than 1 in 2000 persons. More than 6000 rare diseases were identified, and almost 80% of them have a genetic cause. Many rare disorders are characterised by a broad diversity of common symptoms and signs leading to misdiagnosis and delaying treatment. Aicardi...
Alternative Titles
Full title
P56Challenges in rare diseases diagnostic: aicardi-goutieres syndrome - a case report
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1911622927
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1911622927
Other Identifiers
ISSN
0003-9888
DOI
10.1136/archdischild-2017-313273.144
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