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Deficyt Aktywności Transaldolazy – Obraz Kliniczny, Patogeneza, Diagnostyka
Transaldolase deficiency is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients, including 4 from Poland. The aim of this manuscript was to present the clinical presentation, pathogenesis and diagnostic process of transaldolase de...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sciendo
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522900/ https://www.ncbi.nlm.nih.gov/pubmed/30056406 http://dx.doi.org/10.34763/devperiodmed.20182202.187196 |