<?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>0120-8748</journal-id>
<journal-title><![CDATA[Acta Neurológica Colombiana]]></journal-title>
<abbrev-journal-title><![CDATA[Acta Neurol Colomb.]]></abbrev-journal-title>
<issn>0120-8748</issn>
<publisher>
<publisher-name><![CDATA[Asociación Colombiana de Neurología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-87482023000200005</article-id>
<article-id pub-id-type="doi">10.22379/anc.v39i2.1752</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedad de Pompe: historia, epidemiología, fisiopatología y manifestaciones clínicas]]></article-title>
<article-title xml:lang="en"><![CDATA[Pompe's disease: History, epidemiology, pathophysiology and clinical manifestations]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Millán-Pérez]]></surname>
<given-names><![CDATA[Sonia Patricia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Chacón-Valencia]]></surname>
<given-names><![CDATA[Sergio Esteban]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bolaños-Almeida]]></surname>
<given-names><![CDATA[Carlos Ernesto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pardo-Cardozo]]></surname>
<given-names><![CDATA[Nathalia Andrea]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Forero-Botero]]></surname>
<given-names><![CDATA[César Augusto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitario Clínica San Rafael  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Nacional de Colombia  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Pontificia Universidad Javeriana  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,HOMI Fundación, Hospital Pediátrico La Misericordia  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad de la Sabana  ]]></institution>
<addr-line><![CDATA[Chía ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Fundación Santa Fe de Bogotá  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Universidad del Rosario  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2023</year>
</pub-date>
<volume>39</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-87482023000200005&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-87482023000200005&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-87482023000200005&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: La enfermedad de Pompe o glucogenosis tipo II pertenece al grupo de las miopatías metabólicas y es producida por la deficiencia parcial o total de la enzima alfa glucosidasa ácida. La ausencia/ déficit de esta enzima genera un almacenamiento de glucógeno en el interior de los lisosomas en diversos tejidos, incluidos el músculo esquelético, el miocardio y las células del músculo liso. Se trata de una enfermedad multisistémica que puede tener un inicio temprano o tardío de los síntomas.  Contenidos: En este artículo se describirán los aspectos históricos de la enfermedad, su fisiopatología y sus manifestaciones clínicas, con el énfasis puesto en su inicio temprano o tardío.  Conclusiones: Es necesario reconocer la enfermedad de Pompe debido a que esta patología es susceptible de tratamiento.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Pompe's disease or glucogenosis type II belongs to the group of metabolic myopathies and is caused by a partial or total deficiency of the acid alpha glucosidase enzyme. The lack/deficiency of this enzyme generates glycogen storage inside the lysosomes in various tissues including skeletal muscle, myocardium and smooth muscle cells. It is a multisystemic disease that can have an early onset or a late onset.  Contents: In this article, the historical aspects, the pathophysiology and the clinical manifestations of the disease, will be described.  Conclusions: It is necessary to recognize Pompe disease because this pathology is treatable.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Deficiencia de maltasa ácida]]></kwd>
<kwd lng="es"><![CDATA[enfermedad de Pompe]]></kwd>
<kwd lng="es"><![CDATA[glucogenosis 2]]></kwd>
<kwd lng="es"><![CDATA[enfermedad del almacenamiento del glucógeno tipo II]]></kwd>
<kwd lng="en"><![CDATA[Acid maltase deficiency disease]]></kwd>
<kwd lng="en"><![CDATA[GAA deficiency]]></kwd>
<kwd lng="en"><![CDATA[Pompe disease]]></kwd>
<kwd lng="en"><![CDATA[Type II glycogenosis]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[van der Ploeg]]></surname>
<given-names><![CDATA[AT]]></given-names>
</name>
<name>
<surname><![CDATA[Reuser]]></surname>
<given-names><![CDATA[AJJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pompe's disease]]></article-title>
<source><![CDATA[Lancet]]></source>
<year>2008</year>
<volume>372</volume>
<numero>9646</numero>
<issue>9646</issue>
<page-range>1342-53</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Melvin]]></surname>
<given-names><![CDATA[JJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pompe's disease]]></article-title>
<source><![CDATA[Arch Neurol]]></source>
<year>2000</year>
<volume>57</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>134-5</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pompe]]></surname>
<given-names><![CDATA[J.C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hypertrophie idiopathique du coeur]]></article-title>
<source><![CDATA[Ann d'anatomie Pathol]]></source>
<year>1933</year>
<volume>10</volume>
<page-range>23-35</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kohler]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Puertollano]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Raben]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pompe disease: From basic science to therapy]]></article-title>
<source><![CDATA[Neurotherapeutics]]></source>
<year>2018</year>
<volume>15</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>928-42</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Raben]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Plotz]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Byrne]]></surname>
<given-names><![CDATA[BJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease)]]></article-title>
<source><![CDATA[Curr Mol Med]]></source>
<year>2002</year>
<volume>2</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>145-66</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ullah]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Zubaida]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Cheema]]></surname>
<given-names><![CDATA[HA]]></given-names>
</name>
<name>
<surname><![CDATA[Naeem]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families]]></article-title>
<source><![CDATA[J Pediatr Endocrinol Metab]]></source>
<year>2020</year>
<volume>33</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>553-6</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pompe]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Over idiopatsche hypertrophie van het hart]]></article-title>
<source><![CDATA[Ned Tijdschr Geneeskd]]></source>
<year>1932</year>
<numero>76</numero>
<issue>76</issue>
<page-range>304-12</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Savarese]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Di Fruscio]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Torella]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Fiorillo]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Magri]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Fanin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>2016</year>
<volume>87</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>71-6</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hers]]></surname>
<given-names><![CDATA[HG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease)]]></article-title>
<source><![CDATA[Biochem J]]></source>
<year>1963</year>
<volume>86</volume>
<page-range>11-6</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ausems]]></surname>
<given-names><![CDATA[MG]]></given-names>
</name>
<name>
<surname><![CDATA[Verbiest]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Hermans]]></surname>
<given-names><![CDATA[MP]]></given-names>
</name>
<name>
<surname><![CDATA[Kroos]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Beemer]]></surname>
<given-names><![CDATA[FA]]></given-names>
</name>
<name>
<surname><![CDATA[Wokke]]></surname>
<given-names><![CDATA[JH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>1999</year>
<volume>7</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>713-6</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Toscano]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Rodolico]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Musumeci]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Multisystem late onset Pompe disease (LOPD): an update on clinical aspects]]></article-title>
<source><![CDATA[Ann Transl Med]]></source>
<year>2019</year>
<volume>7</volume>
<numero>13</numero>
<issue>13</issue>
<page-range>284</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Schoser]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Hahn]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[James]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Gupta]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Gitlin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Prasad]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A systematic review of the health economics of Pompe disease]]></article-title>
<source><![CDATA[Pharmacoeconom Open]]></source>
<year>2019</year>
<volume>3</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>479-93</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Mechtler]]></surname>
<given-names><![CDATA[TP]]></given-names>
</name>
<name>
<surname><![CDATA[Stary]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Metz]]></surname>
<given-names><![CDATA[TF]]></given-names>
</name>
<name>
<surname><![CDATA[De Jesús]]></surname>
<given-names><![CDATA[VR]]></given-names>
</name>
<name>
<surname><![CDATA[Greber-Platzer]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Pollak]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria]]></article-title>
<source><![CDATA[Lancet]]></source>
<year>2012</year>
<volume>379</volume>
<numero>9813</numero>
<issue>9813</issue>
<page-range>335-41</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[C-F]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[H-C]]></given-names>
</name>
<name>
<surname><![CDATA[Hsu]]></surname>
<given-names><![CDATA[T-R]]></given-names>
</name>
<name>
<surname><![CDATA[Tsai]]></surname>
<given-names><![CDATA[F-C]]></given-names>
</name>
<name>
<surname><![CDATA[Chiang]]></surname>
<given-names><![CDATA[S-F]]></given-names>
</name>
<name>
<surname><![CDATA[Chiang]]></surname>
<given-names><![CDATA[C-C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2014</year>
<volume>164A</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>54-61</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ortiz Giraldo]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Cornejo Ochoa]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
<name>
<surname><![CDATA[Arango]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Enfermedad de Pompe: descripción de las características clínicas y de laboratorio de una familia colombiana]]></article-title>
<source><![CDATA[Acta Neurol Colomb]]></source>
<year>2011</year>
<volume>27</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>231-6</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Castrillón]]></surname>
<given-names><![CDATA[DPC]]></given-names>
</name>
<name>
<surname><![CDATA[Benítez]]></surname>
<given-names><![CDATA[CAV]]></given-names>
</name>
<name>
<surname><![CDATA[Naranjo]]></surname>
<given-names><![CDATA[MM]]></given-names>
</name>
</person-group>
<source><![CDATA[Enfermedad de Pompe: ¿Enfermedad rara o subdiagnosticada? Gp]]></source>
<year>2015</year>
<volume>17</volume>
<numero>1</numero>
<issue>1</issue>
</nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Barrera]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Algarín]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Rogríguez]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Bermúdez]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Sandoval]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Donados]]></surname>
<given-names><![CDATA[MI]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnóstico clínico-bioquímico de la enfermedad de Pompe]]></article-title>
<source><![CDATA[Acta Méd Colomb]]></source>
<year>1993</year>
<page-range>172-6</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Neufeld]]></surname>
<given-names><![CDATA[EF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Unexpected observations-a tribute to Christian de Duve (1917-2013)]]></article-title>
<source><![CDATA[FASEB J]]></source>
<year>2013</year>
<volume>27</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>4661-3</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Reuser]]></surname>
<given-names><![CDATA[AJJ]]></given-names>
</name>
<name>
<surname><![CDATA[van der Ploeg]]></surname>
<given-names><![CDATA[AT]]></given-names>
</name>
<name>
<surname><![CDATA[Chien]]></surname>
<given-names><![CDATA[Y-H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Llerena Jr]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Abbott]]></surname>
<given-names><![CDATA[M-A]]></given-names>
</name>
<name>
<surname><![CDATA[Clemens]]></surname>
<given-names><![CDATA[PR]]></given-names>
</name>
</person-group>
<source><![CDATA[Hum Mutat]]></source>
<year>2019</year>
<volume>40</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>2146-64</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kroos]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hoogeveen-Westerveld]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[van der Ploeg]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Reuser]]></surname>
<given-names><![CDATA[AJJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The genotype-phenotype correlation in Pompe disease]]></article-title>
<source><![CDATA[Am J Med Genet C Semin Med Genet]]></source>
<year>2012</year>
<volume>160C</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>59-68</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Platt]]></surname>
<given-names><![CDATA[FM]]></given-names>
</name>
<name>
<surname><![CDATA[Boland]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[van der Spoel]]></surname>
<given-names><![CDATA[AC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction]]></article-title>
<source><![CDATA[J Cell Biol]]></source>
<year>2012</year>
<volume>199</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>723-34</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Boentert]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Prigent]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Várdi]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Jones]]></surname>
<given-names><![CDATA[HN]]></given-names>
</name>
<name>
<surname><![CDATA[Mellies]]></surname>
<given-names><![CDATA[U]]></given-names>
</name>
<name>
<surname><![CDATA[Simonds]]></surname>
<given-names><![CDATA[AK]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease]]></article-title>
<source><![CDATA[Int J Mol Sci]]></source>
<year>2016</year>
<volume>17</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>1735</page-range></nlm-citation>
</ref>
<ref id="B23">
<label>23</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dubrovsky]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Fulgenzi]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[De Vito]]></surname>
<given-names><![CDATA[EL]]></given-names>
</name>
<name>
<surname><![CDATA[Barroso]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Berardo]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Bettini]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Consenso argentino sobre enfermedad de Pompe de inicio tardío]]></article-title>
<source><![CDATA[Medicina (BAires)]]></source>
<year>2018</year>
<page-range>1-23</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>24</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Musumeci]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Toscano]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnostic tools in late onset Pompe disease (LOPD)]]></article-title>
<source><![CDATA[Ann Transl Med]]></source>
<year>2019</year>
<volume>7</volume>
<numero>13</numero>
<issue>13</issue>
<page-range>286</page-range></nlm-citation>
</ref>
<ref id="B25">
<label>25</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Llerena Junior]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Nascimento]]></surname>
<given-names><![CDATA[OJ]]></given-names>
</name>
<name>
<surname><![CDATA[Oliveira]]></surname>
<given-names><![CDATA[ASB]]></given-names>
</name>
<name>
<surname><![CDATA[Dourado Junior]]></surname>
<given-names><![CDATA[MET]]></given-names>
</name>
<name>
<surname><![CDATA[Marrone]]></surname>
<given-names><![CDATA[CD]]></given-names>
</name>
<name>
<surname><![CDATA[Siqueira]]></surname>
<given-names><![CDATA[HH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease]]></article-title>
<source><![CDATA[Arq Neuropsiquiatr]]></source>
<year>2016</year>
<volume>74</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>166-76</page-range></nlm-citation>
</ref>
<ref id="B26">
<label>26</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tarnopolsky]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Katzberg]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Petrof]]></surname>
<given-names><![CDATA[BJ]]></given-names>
</name>
<name>
<surname><![CDATA[Sirrs]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Sarnat]]></surname>
<given-names><![CDATA[HB]]></given-names>
</name>
<name>
<surname><![CDATA[Myers]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pompe disease: Diagnosis and management. Evidence-based guidelines from a Canadian expert panel]]></article-title>
<source><![CDATA[Can J Neurol Sci]]></source>
<year>2016</year>
<volume>43</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>472-85</page-range></nlm-citation>
</ref>
<ref id="B27">
<label>27</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dubrovsky]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Fulgenzi]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Amartino]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Carlés]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Corderi]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[de Vito]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Consenso argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe]]></article-title>
<source><![CDATA[Neurol Argent]]></source>
<year>2014</year>
<volume>6</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>96-113</page-range></nlm-citation>
</ref>
<ref id="B28">
<label>28</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chan]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Desai]]></surname>
<given-names><![CDATA[AK]]></given-names>
</name>
<name>
<surname><![CDATA[Kazi]]></surname>
<given-names><![CDATA[ZB]]></given-names>
</name>
<name>
<surname><![CDATA[Corey]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Austin]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Hobson-Webb]]></surname>
<given-names><![CDATA[LD]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The emerging phenotype of late-onset Pompe disease: A systematic literature review]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2017</year>
<volume>120</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>163-72</page-range></nlm-citation>
</ref>
<ref id="B29">
<label>29</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Musumeci]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Marino]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Granata]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Morabito]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Bonanno]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Brizzi]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis]]></article-title>
<source><![CDATA[Eur J Neurol]]></source>
<year>2019</year>
<volume>26</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>442-e35</page-range></nlm-citation>
</ref>
<ref id="B30">
<label>30</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Malhotra]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Carrington]]></surname>
<given-names><![CDATA[DC]]></given-names>
</name>
<name>
<surname><![CDATA[Liebeskind]]></surname>
<given-names><![CDATA[DS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Restrictive arteriopathy in late-onset Pompe disease: Case report and review of the literature]]></article-title>
<source><![CDATA[J Stroke Cerebrovasc Dis]]></source>
<year>2017</year>
<volume>26</volume>
<numero>8</numero>
<issue>8</issue>
<page-range>e172-5</page-range></nlm-citation>
</ref>
<ref id="B31">
<label>31</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hobson-Webb]]></surname>
<given-names><![CDATA[LD]]></given-names>
</name>
<name>
<surname><![CDATA[Proia]]></surname>
<given-names><![CDATA[AD]]></given-names>
</name>
<name>
<surname><![CDATA[Thurberg]]></surname>
<given-names><![CDATA[BL]]></given-names>
</name>
<name>
<surname><![CDATA[Banugaria]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Prater]]></surname>
<given-names><![CDATA[SN]]></given-names>
</name>
<name>
<surname><![CDATA[Kishnani]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2012</year>
<volume>106</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>462-9</page-range></nlm-citation>
</ref>
<ref id="B32">
<label>32</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kretzschmar]]></surname>
<given-names><![CDATA[HA]]></given-names>
</name>
<name>
<surname><![CDATA[Wagner]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Hübner]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Danek]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Witt]]></surname>
<given-names><![CDATA[TN]]></given-names>
</name>
<name>
<surname><![CDATA[Mehraein]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency]]></article-title>
<source><![CDATA[J Neurol Sci]]></source>
<year>1990</year>
<volume>98</volume>
<numero>2-3</numero>
<issue>2-3</issue>
<page-range>169-83</page-range></nlm-citation>
</ref>
<ref id="B33">
<label>33</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Karabul]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Skudlarek]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Berndt]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Kornblum]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Kley]]></surname>
<given-names><![CDATA[RA]]></given-names>
</name>
<name>
<surname><![CDATA[Wenninger]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey]]></article-title>
<source><![CDATA[JIMD Rep]]></source>
<year>2014</year>
<volume>17</volume>
<page-range>53-61</page-range></nlm-citation>
</ref>
<ref id="B34">
<label>34</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Taisne]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Desnuelle]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Juntas Morales]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Ferrer Monasterio]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Sacconi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Duval]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Bent spine syndrome as the initial symptom of late-onset Pompe disease: BSS as Initial Symptom of LOPD]]></article-title>
<source><![CDATA[Muscle Nerve]]></source>
<year>2017</year>
<volume>56</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>167-70</page-range></nlm-citation>
</ref>
<ref id="B35">
<label>35</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pardo]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[García-Sobrino]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[López-Ferreiro]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Gastrointestinal symptoms in late-onset Pompe disease: Early response to enzyme replacement therapy]]></article-title>
<source><![CDATA[J Neurol Sci]]></source>
<year>2015</year>
<volume>353</volume>
<numero>1-2</numero>
<issue>1-2</issue>
<page-range>181-2</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
