<?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>1889-836X</journal-id>
<journal-title><![CDATA[Revista de Osteoporosis y Metabolismo Mineral]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Osteoporos Metab Miner]]></abbrev-journal-title>
<issn>1889-836X</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Española de Investigaciones Óseas y Metabolismo Mineral]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1889-836X2026000100012</article-id>
<article-id pub-id-type="doi">10.20960/revosteoporosmetabminer.00093</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Diagnostic significance of persistent hypophosphatasemia in pediatric patients: retrospective analysis and neonatal screening insights]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Domene]]></surname>
<given-names><![CDATA[María José Muñoz]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Catalina]]></surname>
<given-names><![CDATA[Alberto Suárez]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vida]]></surname>
<given-names><![CDATA[José María Gómez]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Iañez]]></surname>
<given-names><![CDATA[Ricardo Pérez]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Torres]]></surname>
<given-names><![CDATA[Manuel Muñoz]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A5 "/>
<xref ref-type="aff" rid="Af6"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fontana]]></surname>
<given-names><![CDATA[Cristina García]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A5 "/>
<xref ref-type="aff" rid="Af6"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fontana]]></surname>
<given-names><![CDATA[Beatriz García]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A5 "/>
<xref ref-type="aff" rid="Af6"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto de Investigación Biosanitaria de Granada (Ibs.Granada) Instituto de Investigación Biosanitaria de Granada (Ibs.Granada) ]]></institution>
<addr-line><![CDATA[Granada ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario Clínico San Cecilio Clinical Analysis Unit ]]></institution>
<addr-line><![CDATA[Granada ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Universitario Clínico San Cecilio Pediatric Unit ]]></institution>
<addr-line><![CDATA[Granada ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Universitario Clínico San Cecilio Endocrinology and Nutrition Unit ]]></institution>
<addr-line><![CDATA[Granada ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Instituto de Salud Carlos III CIBER of Frailty and Healthy Aging (CIBERFES) ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Universidad de Granada Department of Medicine ]]></institution>
<addr-line><![CDATA[Granada ]]></addr-line>
<country>Spain</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2026</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2026</year>
</pub-date>
<volume>18</volume>
<numero>1</numero>
<fpage>12</fpage>
<lpage>20</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1889-836X2026000100012&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1889-836X2026000100012&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1889-836X2026000100012&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). The resulting enzyme deficiency primarily affects bone and dental mineralization, with clinical manifestations ranging from lethal perinatal forms to milder symptoms in later childhood. Despite the availability of targeted therapies, many cases remain undiagnosed, contributing to significant morbidity and mortality.  Material and methods: we conducted a retrospective study including pediatric patients aged 0-12 years with persistently low alkaline phosphatase (ALP) levels. Health records were reviewed to exclude secondary causes of hypophosphatasemia. Eligible patients underwent further laboratory testing and radiographic evaluation to assure persistent low ALP levels and to detect hypomineralization consistent with HPP.  Results: out of 271 initially identified patients, 216 were excluded because of secondary causes. Forty-one patients were suspected of having HPP; of these, 23 declined consent for further evaluation, 15 could not be contacted, and 3 were selected for the screening phase of a clinical trial evaluating an investigational treatment for HPP. Notably, 12 patients died without a definitive diagnosis of HPP, corresponding to a concerning mortality rate of 4.4 % in this cohort.  Conclusions: these findings highlight the underdiagnosis of HPP in pediatric practice and underscore the urgent need for early screening strategies, including neonatal detection, to initiate timely treatment and reduce preventable mortality. Education of healthcare providers and diagnostic algorithms based on serum ALP levels are essential to improve outcomes.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Hypophosphatasia]]></kwd>
<kwd lng="en"><![CDATA[Persistent hypophosphatasemia]]></kwd>
<kwd lng="en"><![CDATA[ALPL gene]]></kwd>
<kwd lng="en"><![CDATA[Tissue-nonspecific alkaline phosphatase (TNSALP)]]></kwd>
<kwd lng="en"><![CDATA[Pediatric and neonatal screening]]></kwd>
</kwd-group>
</article-meta>
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