<?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>0120-8705</journal-id>
<journal-title><![CDATA[CES Medicina]]></journal-title>
<abbrev-journal-title><![CDATA[CES Med.]]></abbrev-journal-title>
<issn>0120-8705</issn>
<publisher>
<publisher-name><![CDATA[Universidad CES]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-87052022000300026</article-id>
<article-id pub-id-type="doi">10.21615/cesmedicina.6781</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Imerslund-Gränsbeck: revisión sistemática de casos clínicos]]></article-title>
<article-title xml:lang="en"><![CDATA[Imerslund-Gränsbeck Syndrome: systematic review of clinical cases]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vargas Rodríguez]]></surname>
<given-names><![CDATA[Ledmar Jovanny]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Espitia Lozano]]></surname>
<given-names><![CDATA[Nicole]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[de la Peña Triana]]></surname>
<given-names><![CDATA[Hannia Milena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vargas Vargas]]></surname>
<given-names><![CDATA[Jeimy Lorena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Barón Barón]]></surname>
<given-names><![CDATA[Javier Orlando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rozo Ortiz]]></surname>
<given-names><![CDATA[Edwar Jassir]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Acosta Pérez]]></surname>
<given-names><![CDATA[Camila Andrea]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Noguera Fonseca]]></surname>
<given-names><![CDATA[Juliana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ruiz]]></surname>
<given-names><![CDATA[Luis Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rivera Perdomo]]></surname>
<given-names><![CDATA[Camilo Andrés]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Galeano Fajardo]]></surname>
<given-names><![CDATA[Marlith Julieth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Boyacá Programa de Medicina ]]></institution>
<addr-line><![CDATA[ Tunja]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario San Rafael Departamento de Medicina Interna ]]></institution>
<addr-line><![CDATA[ Tunja]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Pedagógica y Tecnológica de Colombia (UPTC)  ]]></institution>
<addr-line><![CDATA[ Tunja]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Universitario San Rafael  ]]></institution>
<addr-line><![CDATA[ Tunja]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2022</year>
</pub-date>
<volume>36</volume>
<numero>3</numero>
<fpage>26</fpage>
<lpage>37</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-87052022000300026&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-87052022000300026&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-87052022000300026&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  el Síndrome de Imerslund-Gränsbeck es un trastorno congénito inusual que cursa con disminución de la Vitamina B12, anemia megaloblástica y proteinuria sin afección renal que cual se produce por una mutación de los cromosomas 10 y 14, que condicionan un defecto en el receptor del complejo vitamina B12-factor intrínseco del enterocito ileal. Fue descrita por Olga Imerslund y Armas Gransbeck.  Objetivo:  caracterizar a la población que ha padecido el Síndrome de Imerslund-Gränsbeck.  Metodología:  revisión sistemática de la literatura de casos clínicos.  Resultados:  se incluyeron 68 casos, en la mayoría de los casos el diagnostico en los primeros 10 años de vida, en el que se evidenció una mayor frecuencia en mujeres, y se encontró asociado con antecedentes familiares como consanguinidad entre padres (14,6%). La manifestación más frecuente fue palidez (20,9%), seguido de vomito (10,5%) y anorexia (9,8%). La anemia megaloblástica (66,2%) fue el hallazgo más frecuente y el tratamiento se dio con cianocobalamina (intramuscular u oral) para regular las concentraciones plasmáticas de esta vitamina.  Conclusión:  el Síndrome de Imerslund Gränsbeck tiene una baja prevalencia y se presenta con mayor frecuencia en el continente europeo, tiene predilección por el sexo femenino y se caracteriza por una disminución de la vitamina B12 que pueden que puede predisponer a otras alteraciones como ataxia y retraso en el crecimiento.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  Imerslund-Gränsbeck Syndrome is an unusual congenital disorder that causes a decrease in vitamin B12, megaloblastic anemia and proteinuria without kidney involvement that is caused by a mutation of chromosomes 10 and 14, which determine a defect in the complex receptor vitamin B12-ileal enterocyte intrinsic factor. It was described by Olga Imerslund and Armas Gransbeck.  Objective:  to characterize the population that has suffered from Imerslund Gränsbeck syndrome.  Methodology:  systematic review of the clinical case literature.  Results:  68 cases were included, in most cases the diagnosis in the first 10 years of life, in which a higher frequency was found in women, and was found to be associated with family history such as consanguinity between parents (14.6%). The most frequent manifestation was paleness (20.9%), followed by vomiting (10.5%) and anorexia (9.8%). Megaloblastic anemia (66.2%) was the most frequent finding and treatment was given with cyanocobalamin (intramuscular or oral) to regulate plasma concentrations of this vitamin.  Conclusion:  Imerslund-Gränsbeck Syndrome has a low prevalence and occurs more frequently in the European continent, has a predilection for females and is characterized by a decrease in vitamin B12 that may predispose to other disorders such as ataxia and retardation in growth.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Sindrome de Imerslund-Gränsbeck]]></kwd>
<kwd lng="es"><![CDATA[anemia megaloblástica recesiva]]></kwd>
<kwd lng="es"><![CDATA[proteinuria]]></kwd>
<kwd lng="es"><![CDATA[vitamina B12]]></kwd>
<kwd lng="es"><![CDATA[cobalamina]]></kwd>
<kwd lng="en"><![CDATA[Imerslund-Gränsbeck Syndrome]]></kwd>
<kwd lng="en"><![CDATA[recessive megaloblastic anemia]]></kwd>
<kwd lng="en"><![CDATA[proteinuria]]></kwd>
<kwd lng="en"><![CDATA[vitamin B12]]></kwd>
<kwd lng="en"><![CDATA[cobalamin]]></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[Huemer]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Baumgartner]]></surname>
<given-names><![CDATA[MR]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways]]></article-title>
<source><![CDATA[J Inherit Metab Dis]]></source>
<year>2019</year>
<volume>42</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>686-705</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[Udagawa]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Harita]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Miura]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Mitsui]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Ode]]></surname>
<given-names><![CDATA[KL]]></given-names>
</name>
<name>
<surname><![CDATA[Morishita]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells]]></article-title>
<source><![CDATA[Sci Rep]]></source>
<year>2018</year>
<volume>8</volume>
<numero>1</numero>
<issue>1</issue>
</nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kozyraki]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Cases]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Vitamin B12 absorption: mammalian physiology and acquired and inherited disorders]]></article-title>
<source><![CDATA[Biochimie]]></source>
<year>2013</year>
<volume>95</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>1002-7</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[Storm]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Zeitz]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Cases]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Amsellem]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Verroust]]></surname>
<given-names><![CDATA[PJ]]></given-names>
</name>
<name>
<surname><![CDATA[Madsen]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome]]></article-title>
<source><![CDATA[BMC Med Genet]]></source>
<year>2013</year>
<volume>14</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>111</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[Tanner]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Sturm]]></surname>
<given-names><![CDATA[AC]]></given-names>
</name>
<name>
<surname><![CDATA[Baack]]></surname>
<given-names><![CDATA[EC]]></given-names>
</name>
<name>
<surname><![CDATA[Liyanarachchi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[de la Chapelle]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns]]></article-title>
<source><![CDATA[Orphanet J Rare Dis]]></source>
<year>2012</year>
<volume>7</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>56</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[Watkins]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Rosenblatt]]></surname>
<given-names><![CDATA[DS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Inborn errors of cobalamin absorption and metabolism]]></article-title>
<source><![CDATA[Am J Med Genet C Semin Med Genet]]></source>
<year>2011</year>
<volume>157C</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>33-44</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[Gräsbeck]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hooked to vitamin B12 since 1955: a historical perspective]]></article-title>
<source><![CDATA[Biochimie]]></source>
<year>2013</year>
<volume>95</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>970-5</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[Beech]]></surname>
<given-names><![CDATA[CM]]></given-names>
</name>
<name>
<surname><![CDATA[Liyanarachchi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Shah]]></surname>
<given-names><![CDATA[NP]]></given-names>
</name>
<name>
<surname><![CDATA[Sturm]]></surname>
<given-names><![CDATA[AC]]></given-names>
</name>
<name>
<surname><![CDATA[Sadiq]]></surname>
<given-names><![CDATA[MF]]></given-names>
</name>
<name>
<surname><![CDATA[de la Chapelle]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities]]></article-title>
<source><![CDATA[Orphanet J Rare Dis]]></source>
<year>2011</year>
<volume>6</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>74</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[Scully]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Langdon]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Evans]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Marathon of eponyms: 9 Imerslund-Grasbeck syndrome (Juvenile pernicious anaemia)]]></article-title>
<source><![CDATA[Oral Dis]]></source>
<year>2010</year>
<volume>16</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>219-20</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[Fyfe]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Madsen]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Højrup]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Christensen]]></surname>
<given-names><![CDATA[EI]]></given-names>
</name>
<name>
<surname><![CDATA[Tanner]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[de la Chapelle]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless]]></article-title>
<source><![CDATA[Blood]]></source>
<year>2004</year>
<volume>103</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>1573-9</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[Namour]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Dobrovoljski]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Chery]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Audonnet]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Feillet]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Sperl]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7]]></article-title>
<source><![CDATA[Haematologica]]></source>
<year>2011</year>
<volume>96</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>1715-9</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[Gräsbeck]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria)]]></article-title>
<source><![CDATA[Orphanet J Rare Dis]]></source>
<year>2006</year>
<volume>1</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>17</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[Whitehead]]></surname>
<given-names><![CDATA[VM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Acquired and inherited disorders of cobalamin and folate in children]]></article-title>
<source><![CDATA[Br J Haematol]]></source>
<year>2006</year>
<volume>134</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>125-36</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[Nielsen]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Christensen]]></surname>
<given-names><![CDATA[EI]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Proteinuria and events beyond the slit]]></article-title>
<source><![CDATA[Pediatr Nephrol]]></source>
<year>2010</year>
<volume>25</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>813-22</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[Bor]]></surname>
<given-names><![CDATA[MV]]></given-names>
</name>
<name>
<surname><![CDATA[Cetin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Aytaç]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Altay]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Nexo]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12]]></article-title>
<source><![CDATA[Clin Chem]]></source>
<year>2005</year>
<volume>51</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>2151-5</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[Larsen]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Etzerodt]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Madsen]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Skjødt]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Moestrup]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Andersen]]></surname>
<given-names><![CDATA[CBF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption]]></article-title>
<source><![CDATA[Nat Commun]]></source>
<year>2018</year>
<volume>9</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>5204</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Arunath]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Hoole]]></surname>
<given-names><![CDATA[TJ]]></given-names>
</name>
<name>
<surname><![CDATA[Rathnasri]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Muthukumarana]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Kumarasiri]]></surname>
<given-names><![CDATA[IM]]></given-names>
</name>
<name>
<surname><![CDATA[Liyanage]]></surname>
<given-names><![CDATA[ND]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A child with Imerslund-Gräsbeck syndrome concealed by co-existing &#945;-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report]]></article-title>
<source><![CDATA[BMC Pediatr]]></source>
<year>2021</year>
<volume>21</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>41</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[Watkins]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Rosenblatt]]></surname>
<given-names><![CDATA[DS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism]]></article-title>
<source><![CDATA[Curr Opin Clin Nutr Metab Care]]></source>
<year>2020</year>
<volume>23</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>241-6</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[Gurlek Gokcebay]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Akpinar Tekgunduz]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Cavdarli]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child]]></article-title>
<source><![CDATA[Eur J Med Genet]]></source>
<year>2020</year>
<volume>63</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>103880</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[Bargehr]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Crazzolara]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cabot rings and other peripheral blood features of Imerslund-Gräsbeck syndrome]]></article-title>
<source><![CDATA[Br J Haematol]]></source>
<year>2020</year>
<volume>191</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>11</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[Pacitto]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Prontera]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Stangoni]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Stefanelli]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Ceppi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Cerri]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Imerslund-Gräsbeck syndrome in an infant with a novel intronic variant in the AMN gene: A case report]]></article-title>
<source><![CDATA[Int J Mol Sci]]></source>
<year>2019</year>
<volume>20</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>527</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[Montgomery]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Sayer]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Baines]]></surname>
<given-names><![CDATA[LA]]></given-names>
</name>
<name>
<surname><![CDATA[Hynes]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Vega-Warner]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Johnson]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report]]></article-title>
<source><![CDATA[BMC Med Genet]]></source>
<year>2015</year>
<volume>16</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>35</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[Aparicio López]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[de Lucas Collantes]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Jimenez]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Antón Martín]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Imerslund-Gräsbeck: anemia megaloblástica con proteinuria]]></article-title>
<source><![CDATA[An Pediatr (Barc)]]></source>
<year>2014</year>
<volume>80</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>e62-3</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[Shivbalan]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Srinath]]></surname>
<given-names><![CDATA[MV]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Reversible skin hyperpigmentation in Imerslund-Grasbeck syndrome]]></article-title>
<source><![CDATA[Indian Pediatr]]></source>
<year>2013</year>
<volume>50</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>973-4</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[De Filippo]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Rendina]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Rocco]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Esposito]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Gianfrancesco]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Strazzullo]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN]]></article-title>
<source><![CDATA[Ital J Pediatr]]></source>
<year>2013</year>
<volume>39</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>58</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[Densupsoontorn]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Sanpakit]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Vijarnsorn]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Pattaragarn]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Kangwanpornsiri]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Jatutipsompol]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Imerslund-Gräsbeck syndrome: New mutation in amnionless: Imerslund-Gräsbeck syndrome in Thailand]]></article-title>
<source><![CDATA[Pediatr Int]]></source>
<year>2012</year>
<volume>54</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>e19-21</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[Boina Abdallah]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ogier de Baulny]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Kozyraki]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Passemard]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Fenneteau]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Lebon]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B (12) absorption?]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2012</year>
<volume>107</volume>
<numero>1-2</numero>
<issue>1-2</issue>
<page-range>66-71</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[Levin-Iaina]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Dinour]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Morduchowicz]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Ganon]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Holtzman]]></surname>
<given-names><![CDATA[EJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Molecular study of proteinuria in patients treated with B&#8321;&#8322; supplements: do not forget megaloblastic anemia type 1]]></article-title>
<source><![CDATA[Nephron Clin Pract]]></source>
<year>2011</year>
<volume>118</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>c67-71</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[Storm]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Emma]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Verroust]]></surname>
<given-names><![CDATA[PJ]]></given-names>
</name>
<name>
<surname><![CDATA[Hertz]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Nielsen]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Christensen]]></surname>
<given-names><![CDATA[EI]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A patient with cubilin deficiency]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2011</year>
<volume>364</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>89-91</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[Choquet]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Levrat]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Pondarre]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Vianney]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Guffon]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Maladie d&#8217;Imerslund-Gräsbeck]]></article-title>
<source><![CDATA[Arch Pediatr]]></source>
<year>2009</year>
<volume>16</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>1559-61</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[Madhavan]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Vijayakumar]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Rajajee]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Nammalwar]]></surname>
<given-names><![CDATA[BR]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Imerslund-Grasbeck: asociación con diabetes mellitus]]></article-title>
<source><![CDATA[Pediatra indio]]></source>
<year>2009</year>
<volume>46</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>251-3</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[García Jiménez]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
<name>
<surname><![CDATA[Baldellou Vázquez]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Calvo Martín]]></surname>
<given-names><![CDATA[MT]]></given-names>
</name>
<name>
<surname><![CDATA[Pérez-Lungmus]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[López Pisón]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Déficit de cobalamina hereditario juvenil causado por mutaciones en el gen GIF [Hereditary juvenile cobalamin deficiency due to mutations in GIF gene]]]></article-title>
<source><![CDATA[An Pediatr (Barc)]]></source>
<year>2008</year>
<volume>69</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>56-8</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[Hauck]]></surname>
<given-names><![CDATA[FH]]></given-names>
</name>
<name>
<surname><![CDATA[Tanner]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Henker]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Laass]]></surname>
<given-names><![CDATA[MW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN]]></article-title>
<source><![CDATA[Eur J Pediatr]]></source>
<year>2008</year>
<volume>167</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>671-5</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[Broides]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Yerushalmi]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Levy]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Hadad]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Kaplun]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Tanner]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Chapelle Ade]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Levy]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function]]></article-title>
<source><![CDATA[J Pediatr Hematol Oncol]]></source>
<year>2006</year>
<volume>28</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>715-9</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[Tanner]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Perko]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Oner]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Cetin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Altay]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Yurtsever]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[David]]></surname>
<given-names><![CDATA[KL]]></given-names>
</name>
<name>
<surname><![CDATA[Faivre]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Ismail]]></surname>
<given-names><![CDATA[EA]]></given-names>
</name>
<name>
<surname><![CDATA[Gräsbeck]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[de la Chapelle]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene]]></article-title>
<source><![CDATA[Proc Natl Acad Sci U S A]]></source>
<year>2005</year>
<volume>102</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>4130-3</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[Eitenschenck]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Armari-Alla]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Plantaz]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Pagnier]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ducros]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Décompensation tardive d'une maladie d'Imerslund-Grasbëck [Belated decompensation of an Imerslund-Grasbeck disease]]]></article-title>
<source><![CDATA[Arch Pediatr]]></source>
<year>2005</year>
<volume>12</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>1729-31</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[Carmel]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Green]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Rosenblatt]]></surname>
<given-names><![CDATA[DS]]></given-names>
</name>
<name>
<surname><![CDATA[Watkins]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Update on cobalamin, folate, and homocysteine]]></article-title>
<source><![CDATA[Hematology Am Soc Hematol Educ Program]]></source>
<year>2003</year>
<page-range>62-81</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
