Clinical and diagnostic approach in Congenital Disorders of Glycosylation type 2 transferrin pattern
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11150%2F11%3A10101416" target="_blank" >RIV/00216208:11150/11:10101416 - isvavai.cz</a>
Alternative codes found
RIV/00179906:_____/11:10101416
Result on the web
<a href="http://www.sciencedirect.com/science/article/pii/S0925443911000469" target="_blank" >http://www.sciencedirect.com/science/article/pii/S0925443911000469</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.bbadis.2011.02.011" target="_blank" >10.1016/j.bbadis.2011.02.011</a>
Alternative languages
Result language
angličtina
Original language name
Clinical and diagnostic approach in Congenital Disorders of Glycosylation type 2 transferrin pattern
Original language description
Clinical and biochemical data of ten patients with a so far genetically unsolved glycosylation defect (CDG) are reviewed. The biochemical results were compatible with a type II transferrin isofocusing pattern, suggestive of a Goldi-related inborn error of metabolism. By combining biochemical results with distinctive clinical symptoms we composed a diagnostic flow chart to approach the underlying defect in patients with CDG type IIx. In this group of patients, we found great heterogeneity in clinical symptoms and disease severity. We present a whole new spectrum of CDG-associated anomalies and recommend clinicians to consider CDG syndrome in patients with a far broader spectrum of signs and symptoms than described so far. This includes multiple dysmorphic features, skeletal dysplasia, cardiomyopathy, sudden cardiac arrest, sudden hearing loss, elevated serum copper level, liver failure and endocrine abnormalities. Normal psychomotor development does not exclude CDG type II.
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
FG - Paediatrics
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
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Biochimica et Biophysica Acta - Molecular Basis of Disease
ISSN
0925-4439
e-ISSN
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Volume of the periodical
1812
Issue of the periodical within the volume
6
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
8
Pages from-to
691-698
UT code for WoS article
000290508000006
EID of the result in the Scopus database
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