Impact of age at onset and newborn screening on outcome in organic acidurias

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10326394" target="_blank" >RIV/00064165:_____/16:10326394 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/16:10326394
Result on the web
<a href="http://dx.doi.org/10.1007/s10545-015-9907-8" target="_blank" >http://dx.doi.org/10.1007/s10545-015-9907-8</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10545-015-9907-8" target="_blank" >10.1007/s10545-015-9907-8</a>

Result language
angličtina
Original language name
Impact of age at onset and newborn screening on outcome in organic acidurias
Original language description
Background and aim: To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation. Methods: Datasets of 567 OAD patients from the E-IMD registry were analysed. The sample includes patients with methylmalonic (MMA, n = 164), propionic (PA, n = 144) and isovaleric aciduria (IVA, n = 83), and glutaric aciduria type 1 (GA1, n = 176). Statistical analysis included description and recursive partitioning of diagnostic and therapeutic strategies, and odds ratios (OR) for health outcome parameters. For some analyses, symptomatic patients were divided into those presenting with first symptoms during (i.e. early onset, EO) or after the newborn period (i.e. late onset, LO).
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
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Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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