<?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>0016-3813</journal-id>
<journal-title><![CDATA[Gaceta médica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Gac. Méd. Méx]]></abbrev-journal-title>
<issn>0016-3813</issn>
<publisher>
<publisher-name><![CDATA[Academia Nacional de Medicina de México A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0016-38132019000300014</article-id>
<article-id pub-id-type="doi">10.24875/gmm.18004024</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Deficiencia de lipasa ácida lisosomal, una patología infrecuente]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gómez-Duarte]]></surname>
<given-names><![CDATA[Catalina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García]]></surname>
<given-names><![CDATA[Víctor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Botero]]></surname>
<given-names><![CDATA[Verónica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Aristizabal]]></surname>
<given-names><![CDATA[Ana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Echeverri]]></surname>
<given-names><![CDATA[Gabriel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pachajoa]]></surname>
<given-names><![CDATA[Harry]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Fundación Valle del Lili  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de la Sabana Clínica de la Costa ]]></institution>
<addr-line><![CDATA[Chía ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Icesi  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2019</year>
</pub-date>
<volume>155</volume>
<numero>3</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0016-38132019000300014&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0016-38132019000300014&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0016-38132019000300014&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen El déficit de lipasa ácida lisosomal es una enfermedad genética poco prevalente, con alta morbimortalidad en niños y adultos. Se caracteriza por alteración del metabolismo lipídico que genera depósitos de ésteres de colesterol y triglicéridos en el organismo. La presentación clínica depende de la actividad enzimática. Se debe sospechar en pacientes con alteraciones lipídicas o alteraciones hepáticas después de descartar otros diagnósticos. Actualmente existe la opción de utilizar enzima recombinante, la cual puede mejorar los parámetros lipídicos y hepáticos, así como detener la progresión de la enfermedad. Es imperioso realizar el diagnóstico oportuno para iniciar de forma temprana el tratamiento específico, con el fin de prevenir la morbimortalidad. Se llevó a cabo revisión de la literatura en torno del déficit de lipasa ácida lisosomal, para orientar acerca de su fisiopatología, manifestaciones clínicas, diagnóstico y tratamiento.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Lysosomal acid lipase deficiency is a genetic disease with a low prevalence and high morbidity and mortality in children and adults. It is characterized by an alteration of lipid metabolism, which generates cholesterol and triglyceride esters deposits in the body. Its clinical presentation depends on enzymatic activity. This condition should be suspected in patients with lipid or liver alterations after ruling out other diagnoses. Currently, there is the option of using a recombinant enzyme, which can improve lipid and liver parameters, as well as disease progression. Establishing a timely diagnosis in order to initiate specific treatment early is imperative for the prevention of morbidity and mortality. The purpose of this work is to perform a review of the literature about lysosomal acid lipase deficiency and to guide about its pathophysiology, clinical manifestations, diagnosis and treatment.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Dislipidemia]]></kwd>
<kwd lng="es"><![CDATA[Cirrosis]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad por depósito de esteres de colesterol]]></kwd>
<kwd lng="es"><![CDATA[Deficiencia de lipasa ácida lisosomal]]></kwd>
<kwd lng="es"><![CDATA[Esteatohepatitis]]></kwd>
<kwd lng="es"><![CDATA[Hepatopatía criptogénica]]></kwd>
<kwd lng="en"><![CDATA[Dyslipidemia]]></kwd>
<kwd lng="en"><![CDATA[Cirrhosis]]></kwd>
<kwd lng="en"><![CDATA[Cholesterol esters deposition disease]]></kwd>
<kwd lng="en"><![CDATA[Lysosomal acid lipase deficiency]]></kwd>
<kwd lng="en"><![CDATA[Steatohepatitis]]></kwd>
<kwd lng="en"><![CDATA[Cryptogenic liver disease]]></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[Aslanidis]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Ries]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Fehringer]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Büchler]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Klima]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Schmitz]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity]]></article-title>
<source><![CDATA[Genomics]]></source>
<year>1996</year>
<volume>33</volume>
<page-range>85-93</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[Rader]]></surname>
<given-names><![CDATA[DJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lysosomal acid lipase deficiency:a new therapy for a genetic lipid disease]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2015</year>
<volume>373</volume>
<page-range>1071-3</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[Frampton]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Sebelipase alfa:a review in lysosomal acid lipase deficiency]]></article-title>
<source><![CDATA[Am J Cardiovasc Drugs]]></source>
<year>2016</year>
<volume>16</volume>
<page-range>461-8</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[Reiner]]></surname>
<given-names><![CDATA[&#381;]]></given-names>
</name>
<name>
<surname><![CDATA[Guardamagna]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Nair]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Soran]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Hovingh]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Bertolini]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lysosomal acid lipase deficiency:an under-recognized cause of dyslipidaemia and liver dysfunction]]></article-title>
<source><![CDATA[Atherosclerosis]]></source>
<year>2014</year>
<volume>235</volume>
<page-range>21-30</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[Wierzbicka-Ruci&#324;ska]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ja&#324;czyk]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[&#321;ugowska]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Lebensztejn]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Socha]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnostic and therapeutic management of children with lysosomal acid lipase deficiency (LAL-D). Review of the literature and own experience]]></article-title>
<source><![CDATA[Dev Period Med]]></source>
<year>2016</year>
<volume>20</volume>
<page-range>212-5</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[Su]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Donaldson]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Sharma]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel treatment options for lysosomal acid lipase deficiency:critical appraisal of sebelipase alfa]]></article-title>
<source><![CDATA[Appl Clin Genet]]></source>
<year>2016</year>
<volume>9</volume>
<page-range>157-67</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[Grabowski]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Therapy for lysosomal acid lipase deficiency:replacing a missing link]]></article-title>
<source><![CDATA[Hepatology]]></source>
<year>2013</year>
<volume>58</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>850-2</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[Fasano]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Pisciotta]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Bocchi]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Guardamagna]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Assandro]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Rabacchi]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lysosomal lipase deficiency:molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2012</year>
<volume>105</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>450-6</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[Jones]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
<name>
<surname><![CDATA[Valayannopoulos]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Eckert]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Banikazemi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Bialer]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2015</year>
<volume>18</volume>
<page-range>425-8</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[Ramírez]]></surname>
<given-names><![CDATA[CM]]></given-names>
</name>
<name>
<surname><![CDATA[López]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Turley]]></surname>
<given-names><![CDATA[SD]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lysosomal acid lipase activity:a tool for the detection and management of fatty liver disease?]]></article-title>
<source><![CDATA[EBioMedicine]]></source>
<year>2015</year>
<volume>2</volume>
<page-range>638-9</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[Camarena]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Aldamiz-Echevarría]]></surname>
<given-names><![CDATA[LJ]]></given-names>
</name>
<name>
<surname><![CDATA[Polo]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Barba-Romero]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[García]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Cebolla]]></surname>
<given-names><![CDATA[JJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Actualización en deficiencia de lipasa ácida lisosomal:diagnóstico, tratamiento y seguimiento de los pacientes]]></article-title>
<source><![CDATA[Med Clin]]></source>
<year>2017</year>
<volume>148</volume>
<page-range>429.e1-429.e10</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[Bay]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Cañero-Velasco]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Ciocca]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Cotti]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Cuarterolo]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Fainboim]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Enfermedad hepática y dislipemia como manifestación de deficiencia de lipasa acida lisosomal (LAL-D). Aspectos clínicos, diagnósticos y nuevo tratamiento. Actualización]]></article-title>
<source><![CDATA[Arch Argent Pediatr]]></source>
<year>2017</year>
<volume>115</volume>
<page-range>287-93</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[Reynolds]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cholesteryl ester storage disease:a rare and possibly treatable cause of premature vascular disease and cirrhosis]]></article-title>
<source><![CDATA[J Clin Pathol]]></source>
<year>2013</year>
<volume>66</volume>
<page-range>918-23</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[Scott]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Nazarenko]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Martis]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kozlitina]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G&gt;A) in various racial and ethnic groups]]></article-title>
<source><![CDATA[Hepatolology]]></source>
<year>2013</year>
<volume>58</volume>
<page-range>958-65</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[Stitziel]]></surname>
<given-names><![CDATA[NO]]></given-names>
</name>
<name>
<surname><![CDATA[Fouchier]]></surname>
<given-names><![CDATA[SW]]></given-names>
</name>
<name>
<surname><![CDATA[Sjouke]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Peloso]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Moscoso]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Auer]]></surname>
<given-names><![CDATA[PL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia]]></article-title>
<source><![CDATA[Arterioscler Thromb Vasc Biol]]></source>
<year>2013</year>
<volume>33</volume>
<page-range>2909-14</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Muntoni]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Wiebusch]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Jansen-Rust]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Rust]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Seedorf]]></surname>
<given-names><![CDATA[U]]></given-names>
</name>
<name>
<surname><![CDATA[Schulte]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prevalence of cholesteryl ester storage disease]]></article-title>
<source><![CDATA[Arterioscler Thromb Vasc Biol]]></source>
<year>2007</year>
<volume>27</volume>
<page-range>1866-8</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="book">
<collab>The Human Gene Mutation Database [sitio web]</collab>
<source><![CDATA[HGMD gene result]]></source>
<year>2017</year>
<publisher-loc><![CDATA[Gales, Reino Unido ]]></publisher-loc>
<publisher-name><![CDATA[Institute of Medical Genetics in Cardiff]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tanaka]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Acid lipase deficiency:Wolman disease and cholesteryl ester storage disease]]></article-title>
<source><![CDATA[Nihon Rinsho]]></source>
<year>1995</year>
<volume>53</volume>
<page-range>3004-8</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="book">
<collab>Reference GH [sitio web]</collab>
<source><![CDATA[Lysosomal acid lipase deficiency]]></source>
<year>2017</year>
<publisher-loc><![CDATA[EE. UU ]]></publisher-loc>
<publisher-name><![CDATA[Genetics Home Reference]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Santillán-Hernández]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Almanza-Miranda]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Xin]]></surname>
<given-names><![CDATA[WW]]></given-names>
</name>
<name>
<surname><![CDATA[Goss]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Vera-Loaiza]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Gorráez-De la]]></surname>
<given-names><![CDATA[Mora MT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency]]></article-title>
<source><![CDATA[World J Gastroenterol]]></source>
<year>2015</year>
<volume>21</volume>
<page-range>1001-8</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="book">
<collab>Asociación Española Déficit de Lipasa Ácida Lisosomal [sitio web]</collab>
<source><![CDATA[Prevalencia. Déficit de lipasa ácida lisosomal]]></source>
<year>2019</year>
<publisher-loc><![CDATA[España ]]></publisher-loc>
<publisher-name><![CDATA[Asociación Española Déficit de Lipasa Ácida Lisosomal]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Valles-Ayoub]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Esfandiarifard]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[No]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Sinai]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Khokher]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Kohan]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry]]></article-title>
<source><![CDATA[Genet Test Mol Biomarkers]]></source>
<year>2011</year>
<volume>15</volume>
<page-range>395-8</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[Vespasiani-Gentilucci]]></surname>
<given-names><![CDATA[U]]></given-names>
</name>
<name>
<surname><![CDATA[Gallo]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Piemonte]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Riva]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Porcari]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Vorini]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lysosomal acid lipase activity is reduced both in cryptogenic cirrhosis and in cirrhosis of known etiology]]></article-title>
<source><![CDATA[PloS One]]></source>
<year>2016</year>
<volume>11</volume>
<page-range>e0156113</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[Mendoza-Durán]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Pastor-Rosado]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Fajardo-Giménez]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Vázquez-Pigueiras]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Canals-Candela]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Abad-Linares]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Enfermedad de depósito de ésteres de colesterol. Actualización del diagnóstico y el tratamiento]]></article-title>
<source><![CDATA[Acta Pediatr Esp]]></source>
<year>2015</year>
<volume>73</volume>
<page-range>e31-40</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[Saito]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Ohno]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Suzuki]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Sakuraba]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Structural bases of Wolman disease and cholesteryl ester storage disease]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2012</year>
<volume>105</volume>
<page-range>244-8</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[Xanthomatosis]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Calcified]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Glands Early Finding]]></article-title>
<source><![CDATA[Reported Pic]]></source>
<year>2015</year>
</nlm-citation>
</ref>
<ref id="B27">
<label>27</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Drebber]]></surname>
<given-names><![CDATA[U]]></given-names>
</name>
<name>
<surname><![CDATA[Andersen]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kasper]]></surname>
<given-names><![CDATA[HU]]></given-names>
</name>
<name>
<surname><![CDATA[Lohse]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Stolte]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Dienes]]></surname>
<given-names><![CDATA[HP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Severe chronic diarrhea and weight loss in cholesteryl ester storage disease:a case report]]></article-title>
<source><![CDATA[World J Gastroenterol]]></source>
<year>2005</year>
<volume>11</volume>
<page-range>2364-6</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[Zhang]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Porto]]></surname>
<given-names><![CDATA[AF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cholesteryl ester storage disease:protean presentations of lysosomal acid lipase deficiency]]></article-title>
<source><![CDATA[J Pediatr Gastroenterol Nutr]]></source>
<year>2013</year>
<volume>56</volume>
<page-range>682-5</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[Burton]]></surname>
<given-names><![CDATA[BK]]></given-names>
</name>
<name>
<surname><![CDATA[Deegan]]></surname>
<given-names><![CDATA[PB]]></given-names>
</name>
<name>
<surname><![CDATA[Enns]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Guardamagna]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Horslen]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Hovingh]]></surname>
<given-names><![CDATA[GK]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical features of lysosomal acid lipase deficiency]]></article-title>
<source><![CDATA[J Pediatr Gastroenterol Nutr]]></source>
<year>2015</year>
<volume>61</volume>
<page-range>619-25</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[Bernstein]]></surname>
<given-names><![CDATA[DL]]></given-names>
</name>
<name>
<surname><![CDATA[Hülkova]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Bialer]]></surname>
<given-names><![CDATA[MG]]></given-names>
</name>
<name>
<surname><![CDATA[Desnick]]></surname>
<given-names><![CDATA[RJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cholesteryl ester storage disease:Review of the findings in 135 reported patients with an underdiagnosed disease]]></article-title>
<source><![CDATA[J Hepatol]]></source>
<year>2013</year>
<volume>58</volume>
<page-range>1230-43</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[Morris]]></surname>
<given-names><![CDATA[GE]]></given-names>
</name>
<name>
<surname><![CDATA[Braund]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Moore]]></surname>
<given-names><![CDATA[JS]]></given-names>
</name>
<name>
<surname><![CDATA[Samani]]></surname>
<given-names><![CDATA[NJ]]></given-names>
</name>
<name>
<surname><![CDATA[Codd]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Webb]]></surname>
<given-names><![CDATA[TR]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Coronary artery disease–associated LIPA coding variant rs1051338 reduces lysosomal acid lipase levels and activity in lysosomes]]></article-title>
<source><![CDATA[Arterioscler Thromb Vasc Biol]]></source>
<year>2017</year>
<volume>37</volume>
<page-range>1050-7</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[H&#367;lková]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Elleder]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens]]></article-title>
<source><![CDATA[Histopathology]]></source>
<year>2012</year>
<volume>60</volume>
<page-range>1107-13</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[Ivashkin]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Zharkova]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cholesteryl ester crystals in lysosomal acid lipase deficiency]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2017</year>
<volume>376</volume>
<page-range>e14</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[Pisciotta]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Fresa]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Bellocchio]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Pino]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Guido]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Cantafora]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2009</year>
<volume>97</volume>
<page-range>143-8</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[Hamilton]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Jones]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Srivastava]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Galloway]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2]]></article-title>
<source><![CDATA[Clin Chim Acta]]></source>
<year>2012</year>
<volume>413</volume>
<page-range>1207-10</page-range></nlm-citation>
</ref>
<ref id="B36">
<label>36</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sreekantam]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Nicklaus-Wollenteit]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Orr]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Sharif]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Vijay]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[McKiernan]]></surname>
<given-names><![CDATA[PJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency]]></article-title>
<source><![CDATA[Pediatr Transplant]]></source>
<year>2016</year>
<volume>20</volume>
<page-range>851-4</page-range></nlm-citation>
</ref>
<ref id="B37">
<label>37</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Iverson]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Cairns]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Ward]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Fensom]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin]]></article-title>
<source><![CDATA[Ann Clin Biochem]]></source>
<year>1997</year>
<volume>34</volume>
<page-range>433-6</page-range></nlm-citation>
</ref>
<ref id="B38">
<label>38</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Riva]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Spada]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Sciveres]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Minervini]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Cintorino]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Maggiore]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hepatocarcinoma in a child with cholesterol ester storage disease]]></article-title>
<source><![CDATA[Dig Liver Dis]]></source>
<year>2008</year>
<volume>40</volume>
<page-range>784</page-range></nlm-citation>
</ref>
<ref id="B39">
<label>39</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Jones]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Bernstein]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Bialer]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Dhawan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Hendriksz]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Whitley]]></surname>
<given-names><![CDATA[CB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2014</year>
<volume>111</volume>
<page-range>S57-8</page-range></nlm-citation>
</ref>
<ref id="B40">
<label>40</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Block]]></surname>
<given-names><![CDATA[RC]]></given-names>
</name>
<name>
<surname><![CDATA[Razani]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Options to consider when treating lysosomal acid lipase deficiency]]></article-title>
<source><![CDATA[J Clin Lipidol]]></source>
<year>2016</year>
<volume>10</volume>
<page-range>1280-1</page-range></nlm-citation>
</ref>
<ref id="B41">
<label>41</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Balwani]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Breen]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Enns]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Deegan]]></surname>
<given-names><![CDATA[PB]]></given-names>
</name>
<name>
<surname><![CDATA[Honzík]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Jones]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease]]></article-title>
<source><![CDATA[Hepatology]]></source>
<year>2013</year>
<volume>58</volume>
<page-range>950-7</page-range></nlm-citation>
</ref>
<ref id="B42">
<label>42</label><nlm-citation citation-type="book">
<source><![CDATA[Boletín mensual de la Agencia Española de Medicamentos y Productos Sanitarios junio de 2015]]></source>
<year>2015</year>
<publisher-loc><![CDATA[España ]]></publisher-loc>
<publisher-name><![CDATA[AEMPS]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B43">
<label>43</label><nlm-citation citation-type="book">
<collab>European Medicines Agency</collab>
<source><![CDATA[Assessment report]]></source>
<year>2015</year>
<publisher-loc><![CDATA[Reino Unido ]]></publisher-loc>
<publisher-name><![CDATA[European Medicines Agency/Committee for Medicinal Products for Human Use]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B44">
<label>44</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rutkowski]]></surname>
<given-names><![CDATA[JV]]></given-names>
</name>
<name>
<surname><![CDATA[Burt]]></surname>
<given-names><![CDATA[AD]]></given-names>
</name>
<name>
<surname><![CDATA[Leavitt]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Canty]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Quinn]]></surname>
<given-names><![CDATA[AG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Co-localization of macrophage aggregation and fibrosis in a rat model of lysosomal acid lipase (LAL) deficiency and the effects of enzyme replacement with SBC-102]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2013</year>
<volume>108</volume>
<page-range>S80-1</page-range></nlm-citation>
</ref>
<ref id="B45">
<label>45</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rutkowski]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Burt]]></surname>
<given-names><![CDATA[AD]]></given-names>
</name>
<name>
<surname><![CDATA[Leavitt]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Canty]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Quinn]]></surname>
<given-names><![CDATA[AG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Recombinant human lysosomal acid lipase decreases hepatic macrophage aggregates and colocalized fibrosis in a rat model of lysosomal acid lipase deficiency. hepatology]]></article-title>
<source><![CDATA[Hepatology]]></source>
<year>2012</year>
<volume>56</volume>
<page-range>858A</page-range></nlm-citation>
</ref>
<ref id="B46">
<label>46</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Thelwall]]></surname>
<given-names><![CDATA[PE]]></given-names>
</name>
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[FE]]></given-names>
</name>
<name>
<surname><![CDATA[Leavitt]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
<name>
<surname><![CDATA[Canty]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Hu]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Hollingsworth]]></surname>
<given-names><![CDATA[KG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency:non-invasive identification and treatment monitoring by magnetic resonance]]></article-title>
<source><![CDATA[J Hepatol]]></source>
<year>2013</year>
<volume>59</volume>
<page-range>543-9</page-range></nlm-citation>
</ref>
<ref id="B47">
<label>47</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Shirley]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Sebelipase alfa:first global approval]]></article-title>
<source><![CDATA[Drugs]]></source>
<year>2015</year>
<volume>75</volume>
<page-range>1935-40</page-range></nlm-citation>
</ref>
<ref id="B48">
<label>48</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Valayannopoulos]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Malinova]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Honzík]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Balwani]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Breen]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Deegan]]></surname>
<given-names><![CDATA[PB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency]]></article-title>
<source><![CDATA[J Hepatol]]></source>
<year>2014</year>
<volume>61</volume>
<page-range>1135-42</page-range></nlm-citation>
</ref>
<ref id="B49">
<label>49</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hoffman]]></surname>
<given-names><![CDATA[EP]]></given-names>
</name>
<name>
<surname><![CDATA[Barr]]></surname>
<given-names><![CDATA[ML]]></given-names>
</name>
<name>
<surname><![CDATA[Giovanni]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Murray]]></surname>
<given-names><![CDATA[MF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lysosomal acid lipase deficiency]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Pagon]]></surname>
<given-names><![CDATA[RA]]></given-names>
</name>
<name>
<surname><![CDATA[Adam]]></surname>
<given-names><![CDATA[MP]]></given-names>
</name>
<name>
<surname><![CDATA[Ardinger]]></surname>
<given-names><![CDATA[HH]]></given-names>
</name>
<name>
<surname><![CDATA[Wallace]]></surname>
<given-names><![CDATA[SE]]></given-names>
</name>
<name>
<surname><![CDATA[Amemiya]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Bean]]></surname>
<given-names><![CDATA[LJ]]></given-names>
</name>
</person-group>
<source><![CDATA[GeneReviews [sitio web]]]></source>
<year>1993</year>
<publisher-loc><![CDATA[EE. UU ]]></publisher-loc>
<publisher-name><![CDATA[University of Washington]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B50">
<label>50</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Himes]]></surname>
<given-names><![CDATA[RW]]></given-names>
</name>
<name>
<surname><![CDATA[Barlow]]></surname>
<given-names><![CDATA[SE]]></given-names>
</name>
<name>
<surname><![CDATA[Bove]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Quintanilla]]></surname>
<given-names><![CDATA[NM]]></given-names>
</name>
<name>
<surname><![CDATA[Sheridan]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Kohli]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lysosomal acid lipase deficiency unmasked in two children with nonalcoholic fatty liver disease]]></article-title>
<source><![CDATA[Pediatrics]]></source>
<year>2016</year>
<volume>138</volume>
<page-range>pii</page-range></nlm-citation>
</ref>
<ref id="B51">
<label>51</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Botero]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[García]]></surname>
<given-names><![CDATA[VH]]></given-names>
</name>
<name>
<surname><![CDATA[Gómez-Duarte]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Aristizabal]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Arrunategui]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Echeverri]]></surname>
<given-names><![CDATA[GJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lysosomal acid lipase deficiency, a rare pathology:the first pediatric patient reported in Colombia]]></article-title>
<source><![CDATA[Am J Case Rep]]></source>
<year>2018</year>
<volume>19</volume>
<page-range>669-72</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
