Síndrome de hiperinsulinismohiperamoniemia por mutación de novo en el exón 7 (G979A) del gen GLUD-1,con excelente respuesta a diazóxido
Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (g979a) of the glutamate dehydrogenase gene with excellent response to diazoxide
C. Montero Luis, J. Pozo Román
, M.aT. Muñoz Calvo, G. Martos Moreno, M.aA. Donoso, O. Rubio Cabezas, J. Argente Oliver
Servicio de Endocrinología Pediátrica. Departamento de Pediatría. Hospital Infantil Universitario Niño Jesús. Madrid. España
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