The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10312752" target="_blank" >RIV/00216208:11110/15:10312752 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/15:10312752
Result on the web
<a href="http://dx.doi.org/10.1007/s10545-015-9839-3" target="_blank" >http://dx.doi.org/10.1007/s10545-015-9839-3</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10545-015-9839-3" target="_blank" >10.1007/s10545-015-9839-3</a>
Alternative languages
Result language
angličtina
Original language name
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Original language description
Background The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific. Aims/methods To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry. Results We registered 795 patients with OAD (n = 452) and UCD (n = 343), with ornithine transcarbamylase (OTC) deficiency (n = 196), glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) being the most frequent diseases. Overall, 548 patients (69 %) were symptomatic. The majority of them (n = 463) presented with acute metabolic crisis during (n = 220) or after the newborn period (n = 243) frequently demonstrating impaired consciousness, vomiting and/or muscular hypotonia. Neonatal onset of symptoms was most frequent in argininosuccinic synthetase and lyase deficiency and carbamylphosphate 1 synthetase deficiency, unexpectedly low in male OTC deficiency, and least frequently in GA1 and fema
Czech name
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Czech description
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Classification
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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Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Inherited Metabolic Disease
ISSN
0141-8955
e-ISSN
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Volume of the periodical
38
Issue of the periodical within the volume
6
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
17
Pages from-to
1041-1057
UT code for WoS article
000363980800005
EID of the result in the Scopus database
2-s2.0-84945446745