Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent

Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein. The disorder is rare and has not been reported from our community...

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Autori principali: Ganie, Mohd Ashraf, Ali, Imran, Ahangar, A. G., Wani, Mohd Maqbool, Ahmed, Sanjeed, Bhat, Manzoor Ahmed, Seth, Sulaiman, Mudasir, Syed
Natura: Artigo
Lingua:Inglês
Pubblicazione: Medknow Publications & Media Pvt Ltd 2012
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3401775/
https://ncbi.nlm.nih.gov/pubmed/22837935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/2230-8210.98033
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