Pulmonary Manifestations in a Patient with Transaldolase Deficiency

Transaldolase deficiency is a newly recognized metabolic disorder. It is an autosomal recessive genetic disease (OMIM #606003). The effects of the defect in the TALDO gene are pleiotropic with a clinical presentation of growth retardation, dysmorphic features, cutis laxa, congenital heart disease, h...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Jassim, Nada, AlGhaihab, Mohammed, Saleh, Suhail Al, Alfadhel, Majid, Wamelink, Mirjam M. C., Eyaid, Wafaa
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2013
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3897798/
https://ncbi.nlm.nih.gov/pubmed/23846909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_243
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky