دورية أكاديمية
Glycogen storage diseases, Type I Glucogenosis ; Enfermedades de almacenamiento de glucógeno. Glucogenosis tipo I
| العنوان: | Glycogen storage diseases, Type I Glucogenosis ; Enfermedades de almacenamiento de glucógeno. Glucogenosis tipo I |
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| المؤلفون: | Avellan Zambrano, Richard Franklin, Castro Zambrano, Ana María, Loor Vera, Jesús Gregorio, Lalangui Pinargote, Dayanara Aracely, Quiroga Sabando, Andrea Isabel |
| المصدر: | Anatomía Digital; Vol. 7 No. 1.3 (2024): Laboratorio Clinico; 85-98 ; Anatomía Digital; Vol. 7 Núm. 1.3 (2024): Laboratorio Clinico; 85-98 ; Anatomía Digital; v. 7 n. 1.3 (2024): Laboratorio Clinico; 85-98 ; 2697-3391 ; 10.33262/anatomiadigital.v7i1.3 |
| بيانات النشر: | Editorial Ciencia digital Registrada en la Cámara Ecuatoriana del Libro No Afiliación 663 (Editor DrC. Efraín Velasteguí López. PhD.) |
| سنة النشر: | 2024 |
| مصطلحات موضوعية: | Glycogen storage disease, Glycogen storage disease type I, glucose-6-phosphatase, glucose-6-phosphatase translocase, Enfermedad del almacenamiento de glucógeno, enfermedad del almacenamiento de glucógeno tipo I, glucosa-6-fosfatasa, glucosa-6-fosfatasa translocasa |
| الوصف: | Background: The human body, to obtain energy, breaks down carbohydrates from the diet and converts them into glucose. This process of providing glucose to the body is limited to 2-3 postprandial hours, therefore, a mechanism that guarantees the sustained and sufficient supply of this resource, essential for energy metabolism, is essential. Glycogenosis is a heterogeneous group of hereditary diseases, mostly of autosomal recessive inheritance, which are characterized by a failure in the glycogen metabolic pathway. They are also called “rare” or “orphan” diseases, since few people have them. suffer or have been diagnosed. Objective: synthesize the most current information regarding glycogen diseases type Ia and Ib. Methodology: A narrative bibliographic review was carried out based on a search for scientific articles in the specialized databases SciELO and PubMed. The selection criteria for the construction of the manuscript are: articles in English and/or Spanish that include information regarding the pathophysiology, clinical manifestations, diagnosis and therapeutic approach of glycogenosis type Ia and Ib. Results: An easy-to-read scientific document was constructed that addresses the main topics of glycogenosis Ia and Ib in a way that is accessible to all health levels. Conclusion: Glycogenosis covers a wide range of diseases related to specific enzymatic abnormalities that, depending on the specific type, are more or less complex to diagnose and approach. General area of study: medicine. Specific study area: pediatrics and medical genetics. Type of study: narrative review. ; Introducción: El cuerpo humano, para la obtención de energía, descompone carbohidratos a partir de la dieta y los convierte en glucosa. Este proceso de aporte de glucosa al organismo se limita a las 2-3 horas postprandiales, por cuanto, es indispensable un mecanismo que garantice el aporte sostenido y suficiente de este recurso, fundamental para el metabolismo energético. Las glucogenosis son un grupo heterogéneo de enfermedades ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf; text/plain; application/epub+zip |
| اللغة: | Spanish; Castilian |
| العلاقة: | https://cienciadigital.org/revistacienciadigital2/index.php/AnatomiaDigital/article/view/2954/7672Test; https://cienciadigital.org/revistacienciadigital2/index.php/AnatomiaDigital/article/view/2954/7673Test; https://cienciadigital.org/revistacienciadigital2/index.php/AnatomiaDigital/article/view/2954/7962Test; https://cienciadigital.org/revistacienciadigital2/index.php/AnatomiaDigital/article/view/2954/7963Test; https://cienciadigital.org/revistacienciadigital2/index.php/AnatomiaDigital/article/view/2954Test |
| DOI: | 10.33262/anatomiadigital.v7i1.3.2954 |
| الإتاحة: | https://doi.org/10.33262/anatomiadigital.v7i1.3.295410.33262/anatomiadigital.v7i1.3Test https://cienciadigital.org/revistacienciadigital2/index.php/AnatomiaDigital/article/view/2954Test |
| حقوق: | Derechos de autor 2024 Anatomía Digital |
| رقم الانضمام: | edsbas.E464CAF0 |
| قاعدة البيانات: | BASE |
| DOI: | 10.33262/anatomiadigital.v7i1.3.2954 |
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