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Manual Clínico De Las Glucogenosis

Authors: Alberto Molares-Vila; Miguel Carnero Gregorio; Alberte Corbalán Rivas; Mariana Sánchez Covarrubias;

Manual Clínico De Las Glucogenosis

Abstract

La Fundación Ediciones Clío constituye una institución sin fines de lucro que procura la promoción de la ciencia, la cultura y la formación integral dirigida a grupos y colectivos de investigación. Nuestro principal objetivo es el de difundir contenido científico, humanístico, pedagógico y cultural con la intención de fomentar el desarrollo académico, mediante la creación de espacios adecuados que faciliten la promoción y divulgación de nuestros textos en formato digital. La Fundación, muy especialmente, se abocará a la vigilancia de la implementación de los beneficios sociales emanados de los entes públicos y privados, asimismo, podrá realizar cualquier tipo de consorciado, alianza, convenios y acuerdos con entes privados y públicos tanto de carácter local, municipal, regional e internacional. Las glucogenosis (en inglés GSD o “glycogen storage diseases”) constan de 19 enfermedades hereditarias causadas por el mal funcionamiento de una o más enzimas involucradas en la síntesis o degradación del glucógeno y se caracterizan por depósitos o tipos anormales de glucógeno en los tejidos. De frecuencia muy baja, se consideran enfermedades raras. A excepción del tipo IX ligado al cromosoma X, se heredan con un patrón autosómico recesivo. Este manual es una compilación de la documentación científica que se conoce a nivel internacional, para las glucogenosis de mayor prevalencia, pero que pocas veces se encuentra traducida al español, por lo que está dirigida al mundo hispanohablante tanto de profesionales de la salud como a afectados y sus familias. Toda la información aquí recogida ha sido extraída de bibliografía científica generada por diversos grupos de investigación, de distinta procedencia, y también de la experiencia de pacientes expertos en dichas patologías. Atentamente; Dr. Jorge Fymark Vidovic López https://orcid.org/0000-0001-8148-4403 Director Editorial https://www.edicionesclio.com/

Keywords

Glucógeno, Glucogenosis, Pompe, Von Gierke, McArdle

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selected citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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