Clinical and molecular characteristics of two transaldolase-deficient patients

Transaldolase (TALDO) deficiency is a rare metabolic disease in the pentose phosphate pathway, which manifests as a severe, early-onset multisystem disease. The body fluids of affected patients contain increased polyol concentrations and seven-carbon chain carbohydrates. We report the molecular and...

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Detalles Bibliográficos
Autores principales: Tylki-Szymanska, Anna, Wamelink, Mirjam M. C., Stradomska, Teresa J., Salomons, Gajja S., Taybert, Joanna, Dąbrowska-Leonik, Nel, Rurarz, Małgorzata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245499/
https://www.ncbi.nlm.nih.gov/pubmed/24497183
http://dx.doi.org/10.1007/s00431-014-2261-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245499/
https://www.ncbi.nlm.nih.gov/pubmed/24497183
http://dx.doi.org/10.1007/s00431-014-2261-2

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