Recognizable phenotypes in CDG

Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive a...

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Udgivet i:J Inherit Metab Dis
Main Authors: Ferreira, Carlos R., Altassan, Ruqaia, Marques-Da-Silva, Dorinda, Francisco, Rita, Jaeken, Jaak, Morava, Eva
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5960425/
https://ncbi.nlm.nih.gov/pubmed/29654385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-018-0156-5
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