<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0120-4157</journal-id>
<journal-title><![CDATA[Biomédica]]></journal-title>
<abbrev-journal-title><![CDATA[Biomédica]]></abbrev-journal-title>
<issn>0120-4157</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-41572018000500030</article-id>
<article-id pub-id-type="doi">10.7705/biomedica.v38i0.3454</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular]]></article-title>
<article-title xml:lang="en"><![CDATA[Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mantilla]]></surname>
<given-names><![CDATA[Carolina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Toro]]></surname>
<given-names><![CDATA[Mónica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sepu&#769;lveda]]></surname>
<given-names><![CDATA[María Elsy]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Insuasty]]></surname>
<given-names><![CDATA[Margarita]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[di Filippo]]></surname>
<given-names><![CDATA[Diana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López]]></surname>
<given-names><![CDATA[Juan Álvaro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Baquero]]></surname>
<given-names><![CDATA[Carolina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Navas]]></surname>
<given-names><![CDATA[Mari&#769;a Cristina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Arias]]></surname>
<given-names><![CDATA[Andrés Augusto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A4"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Antioquia Facultad de Medicina ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Pablo Tobón Uribe  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Antioquia Grupo de Inmunodeficiencias Primarias ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad de Antioquia Escuela de Microbiología ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>05</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>05</month>
<year>2018</year>
</pub-date>
<volume>38</volume>
<fpage>30</fpage>
<lpage>42</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-41572018000500030&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-41572018000500030&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-41572018000500030&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción.  La enfermedad por almacenamiento de glucógeno de tipo III es una alteración autosómica recesiva, en la cual las mutaciones del gen AGL causan una deficiencia en la enzima desramificadora de glucógeno. Se caracteriza por hipoglucemia, hepatomegalia y miopatías progresivas. El análisis molecular del gen AGL ha evidenciado mutaciones que difieren según la población estudiada. En la actualidad, no existen reportes que describan mutaciones en el AGL de pacientes colombianos con esta condición.  Objetivo.  Describir las características clínicas y moleculares de diez pacientes colombianos con enfermedad por almacenamiento del glucógeno de tipo III.  Materiales y métodos.  Se analizaron diez pacientes pediátricos colombianos con la enfermedad y se hizo su estudio genético mediante la secuenciación de las regiones que codifican y las intrónicas circundantes del gen AGL con el método de Sanger.  Resultados.  Todos los pacientes tenían el fenotipo clásico de la enfermedad. El estudio genético reveló la mutación p.Arg910X en dos pacientes. Uno presentó la mutación p.Glu1072AspfsX36 y otro resultó heterocigoto compuesto con las mutaciones p.Arg910X y p.Glu1072AspfsX36. Asimismo, en tres pacientes se detectó la deleción de los exones 4, 5 y 6 del gen AGL. Los estudios de simulación computacional predijeron que estos defectos eran patogénicos. En tres pacientes no se encontraron mutaciones en las regiones amplificadas.  Conclusión.  Se encontraron mutaciones y deleciones que explican el fenotipo clínico de los pacientes. Este es el primer reporte en el que se describe el fenotipo clínico y el espectro de mutaciones en el gen AGL de pacientes colombianos, lo cual es importante para ofrecer un apropiado pronóstico, y asesoría genética al paciente y a su familia.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. The disease is characterized by fasting hypoglycemia, hepatomegaly and progressive myopathy. Molecular analyses of AGL have indicated heterogeneity depending on ethnic groups. The full spectrum of AGL mutations in Colombia remains unclear.  Objective:  To describe the clinical and molecular characteristics of ten Colombian patients diagnosed with GSD III.  Materials and methods:  We recruited ten Colombian children with a clinical and biochemical diagnosis of GSD III to undergo genetic testing. The full coding exons and the relevant exon-intron boundaries of the AGL underwent Sanger sequencing to identify mutation.  Results:  All patients had the classic phenotype of the GSD III. Genetic analysis revealed a mutation p.Arg910X in two patients. One patient had the mutation p.Glu1072AspfsX36, and one case showed a compound heterozygosity with p.Arg910X and p.Glu1072AspfsX36 mutations. We also detected the deletion of AGL gene 3, 4, 5, and 6 exons in three patients. The in silico studies predicted that these defects are pathogenic. No mutations were detected in the amplified regions in three patients.  Conclusion: We found mutations and deletions that explain the clinical phenotype of GSDIII patients. This is the first report with a description of the clinical phenotype and the spectrum of AGLmutations in Colombian patients. This is importantto provide appropriate prognosis and genetic counseling to the patient and their relatives.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[enfermedad del almacenamiento de glucógeno de tipo III/diagnóstico]]></kwd>
<kwd lng="es"><![CDATA[glucógeno]]></kwd>
<kwd lng="es"><![CDATA[sistema de la enzima desramificadora del glucógeno]]></kwd>
<kwd lng="es"><![CDATA[glucogenólisis.]]></kwd>
<kwd lng="en"><![CDATA[Glycogen storage disease type III/diagnosis]]></kwd>
<kwd lng="en"><![CDATA[glycogen]]></kwd>
<kwd lng="en"><![CDATA[glycogen debranching enzyme system]]></kwd>
<kwd lng="en"><![CDATA[glycogenolysis]]></kwd>
</kwd-group>
</article-meta>
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