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Does Early Treatment Prevent Deafness in Thiamine-Responsive Megaloblastic Anaemia Syndrome?
Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. W...
Autores principales: | Akın, Leyla, Kurtoğlu, Selim, Kendirci, Mustafa, Akın, Mustafa Ali, Karakükçü, Musa |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3065315/ https://www.ncbi.nlm.nih.gov/pubmed/21448333 http://dx.doi.org/10.4274/jcrpe.v3i1.08 |
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