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Allgrove syndrome and motor neuron disease
Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in AAAS gene which encodes a protein called ALADIN. Generally, it’s characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, bes...
Autores principales: | de Freitas, Marcos R.G., Orsini, Marco, Araújo, Alexandra Prufer de Queiroz Campos, Jr., Luiz João Abraão, Barbosa, Gilberto Miranda, França, Marcondes C., Correia, Luan, Bastos, Victor Hugo, Trajano, Eduardo, Jr., Mauricio da Sant’Anna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Publications, Pavia, Italy
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050446/ https://www.ncbi.nlm.nih.gov/pubmed/30069287 http://dx.doi.org/10.4081/ni.2018.7436 |
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