{"id":1421,"date":"2025-03-14T11:58:21","date_gmt":"2025-03-14T11:58:21","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=1421"},"modified":"2025-08-01T14:26:15","modified_gmt":"2025-08-01T14:26:15","slug":"enzymy-biomarker-metaboliczny","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/pl\/diagnostics\/enzymes-metabolic-biomarker\/","title":{"rendered":"Enzymy i biomarker metaboliczny"},"content":{"rendered":"<section class=\"bloque-banner-titulo-page  estilo-grey\" id=\"\">\r\n    \r\n    <div class=\"image-wrapper\">\r\n\r\n      <!-- include mp4 video on a loop -->\r\n              <img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-diagnostics-our-tests_biomarker-multiomics-header_6599a09aae.webp\" alt=\"csm_centogene-diagnostics-our-tests_biomarker-multiomics-header_6599a09aae\" \/>\r\n          <\/div>\r\n    <div class=\"container content-wrapper\">\r\n      <div class=\"row justify-content-start align-items-center\">\r\n\r\n\r\n        <div class=\"col-12 col-lg-6 animation fadeTop align-self-center\">\r\n                  <h1>Enzymy i biomarker metaboliczny<\/h1>\r\n          <h2 class=\"bl-texto\">Toruj\u0105c drog\u0119 terapiom spersonalizowanym. \u0141\u0105czymy informacje z genomiki, proteomiki i metabolomiki, aby umo\u017cliwi\u0107 wczesn\u0105 diagnostyk\u0119, prognozowanie i monitorowanie terapii.<\/h2>           \r\n          <a class=\"btn btn-primary mb-2\" href=\"#more\">Dowiedz si\u0119 wi\u0119cej<\/a>\r\n                            <\/div>\r\n\r\n      <\/div>\r\n    <\/div>\r\n\r\n<\/section>\r\n<div class=\"breadcrumbs\">\r\n    <div class=\"container\">\r\n      <div class=\"row\">\r\n        <div class=\"col-12\">\r\n          <ul id=\"breadcrumbs\" class=\"breadcrumbs\"><li><a href=\"https:\/\/www.centogene.com\/pl\/\">Dom<\/a><\/li><\/ul>        <\/div>\r\n      <\/div>\r\n    <\/div>\r\n<\/div>\r\n\r\n\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">Przyspieszanie diagnoz i kierowanie opcjami leczenia<\/h2>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\">Idealny biomarker odgrywa istotn\u0105 rol\u0119 we wczesnym diagnozowaniu, przewidywaniu i monitorowaniu leczenia konkretnej choroby, odzwierciedlaj\u0105c ci\u0119\u017car, jaki choroba ta niesie dla pacjent\u00f3w.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Wykorzystanie biomarkera, zar\u00f3wno jako narz\u0119dzia diagnostycznego, jak i w regularnym monitorowaniu post\u0119pu choroby, mo\u017ce mie\u0107 wysok\u0105 warto\u015b\u0107 kliniczn\u0105 dla pacjent\u00f3w. Biomarkery mog\u0105 by\u0107 wykorzystywane jako miara skuteczno\u015bci terapii, a nawet jako wskaz\u00f3wka do dawkowania.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">CENTOGENE oferuje szybk\u0105 diagnostyk\u0119 medyczn\u0105 rzadkich chor\u00f3b dziedzicznych dzi\u0119ki najszerszej ofercie test\u00f3w genetycznych, w po\u0142\u0105czeniu z testami biomarker\u00f3w i enzym\u00f3w, a tak\u017ce najlepsz\u0105 w swojej klasie interpretacj\u0105.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h5 class=\"wp-block-heading mb-3\">Cechy biomarker\u00f3w CENTOGENE<\/h5>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-8f761849 wp-block-group-is-layout-flex\">\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_pharma_operationalising_clinical_trials_icon_pharma_single_pill.svg\" alt=\"\" class=\"wp-image-1089\" style=\"object-fit:cover\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Monitorowanie odpowiedzi na leczenie<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-8f761849 wp-block-group-is-layout-flex\">\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-centocard-icon-complete.svg\" alt=\"\" class=\"wp-image-1989\" style=\"object-fit:cover;width:70px;height:70px\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Uproszczona logistyka i analiza w suchych plamach krwi (DBS) dzi\u0119ki technologii kart filtracyjnych z oznaczeniem CE (CentoCard<sup>\u00ae<\/sup>)<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-8f761849 wp-block-group-is-layout-flex\">\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-biomarker-testing-icon-biomarker.svg\" alt=\"\" class=\"wp-image-3389\" style=\"object-fit:cover;width:70px;height:70px\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Wysoka czu\u0142o\u015b\u0107 i swoisto\u015b\u0107<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-8f761849 wp-block-group-is-layout-flex\">\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-chromosomal-microarray-testing-icon-calendar-TAT.svg\" alt=\"\" class=\"wp-image-1572\" style=\"object-fit:cover;width:70px;height:70px\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Kr\u00f3tki czas realizacji<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-group is-nowrap is-layout-flex wp-container-core-group-is-layout-8f761849 wp-block-group-is-layout-flex\">\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/Icon_Pharma_Pill_Bottle.svg\" alt=\"\" class=\"wp-image-3388\" style=\"object-fit:cover;width:70px;height:70px\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Kierowanie indywidualnym schematem leczenia w celu uzyskania lepszych wynik\u00f3w<\/p>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"more\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">Zastosowanie test\u00f3w biochemicznych<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Badania aktywno\u015bci enzym\u00f3w i biomarker\u00f3w mog\u0105 by\u0107 wykorzystywane do diagnostyki chor\u00f3b i walidacji rozwoju nowych lek\u00f3w. Enzymy i biomarkery biochemiczne cz\u0119sto odgrywaj\u0105 kluczow\u0105 rol\u0119 w procesach fizjologicznych. Dlatego stanowi\u0105 pot\u0119\u017cne narz\u0119dzie do wykrywania wczesnych objaw\u00f3w chor\u00f3b lub usprawniania ich post\u0119pu.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h4 class=\"wp-block-heading\">Og\u00f3lne zastosowanie test\u00f3w biochemicznych<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Przewodnik po schematach terapeutycznych<\/li>\n\n\n\n<li>Badanie kohortowe os\u00f3b zagro\u017conych<\/li>\n<\/ul>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n<\/div>\n\n\n    <section class=\"bloque-personalizado bloque-cajas-imgs estilo-cajasiconos\" >\n        <div class=\"\"> \n                        <div class=\"row justify-content-between\">\n\n                                        \n                <div class=\"swiper-slide col-12 col-md-3 delay-1 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-1\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-biomarker-testing-icon-biomarker.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">BADANIA BIOMARKER\u00d3W I ENZYM\u00d3W<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Monitorowanie nast\u0119pcze<\/li>\n<li>Mierzy post\u0119p choroby i odpowied\u017a na leczenie<\/li>\n<li>Diagnostyka r\u00f3\u017cnicowa<\/li>\n<\/ul>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-3 delay-1 delay-2 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-2\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-biomarker-testing-icon-computer-profile.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">Panele enzymatyczne<\/h3>\n                            <p>Pierwsza diagnostyka z\u0142o\u017conych i wielouk\u0142adowych chor\u00f3b metabolicznych<\/p>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-3 delay-1 delay-2 delay-3 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-3\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-biomarker-testing-icon-dna-single-genes-2.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">Biomarker\/Enzym + Analiza pojedynczego genu<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Podejrzenie specyficznego zaburzenia<\/li>\n<li>Wyra\u017anie zdefiniowane objawy<\/li>\n<li>W celu kompleksowego podejmowania decyzji dotycz\u0105cych leczenia<\/li>\n<\/ul>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-3 delay-1 delay-2 delay-3 delay-4 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-4\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-biomarker-testing-icon-dna-panels.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">Panel genetyczny + biomarker\/enzym<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Podejrzenie zaburzenia metabolicznego<\/li>\n<li>Z\u0142o\u017cone, nak\u0142adaj\u0105ce si\u0119 objawy z szerok\u0105 diagnostyk\u0105 r\u00f3\u017cnicow\u0105<\/li>\n<li>Nieprawid\u0142owe wyniki bada\u0144 przesiewowych noworodk\u00f3w<\/li>\n<li>Przyj\u0119cie na oddzia\u0142 intensywnej terapii noworodk\u00f3w<\/li>\n<li>Objawy zwi\u0105zane ze schorzeniami neurologicznymi o nieznanej etymologii<\/li>\n<li>Nak\u0142adaj\u0105ce si\u0119 objawy o r\u00f3\u017cnym wieku wyst\u0105pienia i nasileniu<\/li>\n<\/ul>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                                     \n             \n            \n        <\/div>\n    <\/div>  \n<\/section>\n\n\n\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">Cechy biomarker\u00f3w CENTOGENE<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u0141atwe do analizy przy u\u017cyciu technologii DBS (suche plamy krwi)<\/li>\n\n\n\n<li>Powi\u0105zane z objawami klinicznymi<\/li>\n\n\n\n<li>\u0141atwe i niezawodne oznaczanie ilo\u015bciowe w pr\u00f3bkach klinicznych<\/li>\n\n\n\n<li>Realistycznie odzwierciedli\u0107 ci\u0119\u017car choroby<\/li>\n\n\n\n<li>Wyja\u015bnij molekularn\u0105 patogenez\u0119 choroby<\/li>\n\n\n\n<li>Odzwierciedlaj\u0105 wyniki pomiar\u00f3w terapeutycznych<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">Strategie testowania \u2013 szybkie i dok\u0142adne<\/h2>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">W przypadku z\u0142o\u017conych chor\u00f3b i \u015bcie\u017cek chorobowych, sam test genetyczny zazwyczaj nie jest w stanie dostarczy\u0107 informacji niezb\u0119dnych do postawienia ostatecznej diagnozy. Dlatego <strong>CENTOGENE jest pionierem w \u0142\u0105czeniu r\u00f3\u017cnych test\u00f3w<\/strong> , takich jak testy biomarkerowe i wielobiomarkerowe, z jasnymi zaleceniami dotycz\u0105cymi strategii testowania <sup>[1]<\/sup> . Te strategie testowania oferuj\u0105 Tobie i Twoim pacjentom szybsze, bardziej niezawodne i kompletne rozwi\u0105zanie \u2013 dostarczaj\u0105c kluczowych i szybkich odpowiedzi wtedy, gdy s\u0105 one najbardziej potrzebne.<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Testowanie<\/th><th>Strategia<\/th><th>Portfolio CENTOGENE<\/th><\/tr><\/thead><tbody><tr><th><strong>Biomarker<\/strong><\/th><td>Badanie biomarker\u00f3w przed lub po diagnozie<\/td><td>w przypadku nast\u0119puj\u0105cych chor\u00f3b: choroba Gauchera, choroba Fabry\u2019ego, choroba Niemanna-Picka typu A\/B i typu C, niedob\u00f3r AADC.<\/td><\/tr><tr><th><strong>Enzym<\/strong><\/th><td>Badanie aktywno\u015bci enzym\u00f3w przed lub po diagnozie<\/td><td>w przypadku nast\u0119puj\u0105cych chor\u00f3b: choroba Gauchera, choroba Fabry\u2019ego, choroba Pompego, zesp\u00f3\u0142 Hurlera (MPS I), zesp\u00f3\u0142 Huntera (MPS II), zesp\u00f3\u0142 Maroteaux-Lamy\u2019ego (MPS VI), zesp\u00f3\u0142 Morquio B (MPS IV B), choroba Wolmana, zesp\u00f3\u0142 Sanfilippo B (MPS III B), beta-mannozydoza, fukozydoza, zesp\u00f3\u0142 Sly\u2019a (MPS VII), choroba Taya-Sachsa, choroba Sandhoffa, choroba Schindlera\/Kanzakiego, choroba Santavuori-Haltia, choroba Jansky\u2019ego-Bielschowsky\u2019ego<\/td><\/tr><tr><th colspan=\"3\">Rozwi\u0105zania multiomiczne<\/th><\/tr><tr><th><strong>Panel genetyczny + biomarker \/ enzym<\/strong><\/th><td>Najpierw testowanie szerokiego zakresu gen\u00f3w, a nast\u0119pnie przeprowadzanie test\u00f3w biochemicznych<sup>1<\/sup><\/td><td class=\"translation-block\">CentoMetabolic <sup>\u00ae<\/sup> MOx (~ 200 zaburze\u0144 metabolicznych)<br> Dost\u0119pne r\u00f3wnie\u017c w po\u0142\u0105czeniu z WES lub WGS i dodatkowym RNA-seq.<br> Wi\u0119cej informacji znajdziesz na stronie: <a href=\"http:\/\/multiomic\" target=\"_self\">Multiomic Solutions<\/a> .<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">Unikalna wiedza specjalistyczna CENTOGENE w zakresie zaburze\u0144 metabolicznych<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">ZaburzeniaTransformacja zarz\u0105dzania zaburzeniami metabolicznymi<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Choroby metaboliczne to grupa rzadkich, dziedzicznych chor\u00f3b charakteryzuj\u0105cych si\u0119 nieprawid\u0142owym gromadzeniem si\u0119 r\u00f3\u017cnych metabolit\u00f3w w kom\u00f3rkach, co prowadzi do upo\u015bledzenia funkcjonowania dotkni\u0119tych nimi organelli kom\u00f3rkowych.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Kolejna podgrupa, choroby spichrzeniowe lizosom\u00f3w (LSD), \u0142\u0105cznie dotykaj\u0105 1 na 5000 \u017cywych urodze\u0144, przy czym najpowszechniejsz\u0105 jest choroba Fabry\u2019ego i Gauchera.<sup>2,3,4<\/sup>&nbsp;Szacuje si\u0119, \u017ce co 20 minut rodzi si\u0119 dziecko z odziedziczonym LSD.<\/p>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">Firma CENTOGENE opracowa\u0142a wiele specyficznych biomarker\u00f3w dla niekt\u00f3rych LSD z opcjami terapeutycznymi. Na przyk\u0142ad Lyso-Gb1 zosta\u0142 zidentyfikowany jako najskuteczniejszy biomarker choroby Gauchera. <sup>5<\/sup> Wszystkie analizy mo\u017cna wykona\u0107 z wysuszonych kropli krwi za pomoc\u0105 <sup>CentoCard\u00ae<\/sup> , co pomaga we wczesnej diagnostyce, a tak\u017ce w monitorowaniu post\u0119pu choroby i monitorowaniu terapii konkretnego schorzenia w najbardziej efektywny spos\u00f3b.<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Test enzymatyczny<\/th><th>Choroba\/Zesp\u00f3\u0142<\/th><th>Rodzaj choroby<\/th><th>Metoda wykrywania<\/th><th>Gen<\/th><\/tr><\/thead><tbody><tr><td>beta-glukocerebrozydaza<\/td><td>Choroba Gauchera<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>GBA<\/em><\/td><\/tr><tr><td>alfa-galaktozydaza<\/td><td>Choroba Fabry&#039;ego<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>GLA<\/em><\/td><\/tr><tr><td>alfa-glukozydaza<\/td><td>Choroba Pompego<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>GAA<\/em><\/td><\/tr><tr><td>alfa-L-iduronidaza<\/td><td>Zesp\u00f3\u0142 Hurlera (MPS I)<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>IDUA<\/em><\/td><\/tr><tr><td>iduronianu-2-sulfatazy<\/td><td>Zesp\u00f3\u0142 Huntera (MPS II)<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>IDS<\/em><\/td><\/tr><tr><td>arylosulfataza B<\/td><td>Zesp\u00f3\u0142 Maroteaux-Lamy\u2019ego (MPS VI)<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>ARSB<\/em><\/td><\/tr><tr><td>beta-galaktozydaza<\/td><td>Zesp\u00f3\u0142 Morquio B (MPS IV B)<\/td><td>LSD<\/td><td>Tandem-MS<\/td><td><em>GLB1<\/em><\/td><\/tr><tr><td>lipaza kwasowa<\/td><td>Choroba Wolmana<\/td><td>LSD<\/td><td>Tandem-MS<\/td><td><em>LIPA<\/em><\/td><\/tr><tr><td>alfa-N-acetyloglukozaminidaza<\/td><td>Zesp\u00f3\u0142 Sanfilippo B (MPS III B)<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>NAGLU<\/em><\/td><\/tr><tr><td>beta-mannozydaza<\/td><td>Beta-mannozydoza<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>MANBA<\/em><\/td><\/tr><tr><td>alfa-fukozydaza<\/td><td>Fukozydoza<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>FUCA1<\/em><\/td><\/tr><tr><td>beta-glukuronidaza<\/td><td>Zesp\u00f3\u0142 Sly&#039;a (MPS VII)<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>GUSB<\/em><\/td><\/tr><tr><td>beta-heksosaminidaza<\/td><td>Choroba Taya-Sachsa<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>HEXA<\/em><\/td><\/tr><tr><td>ca\u0142kowita heksosaminidaza<\/td><td>Choroba Sandhoffa<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>HEXB<\/em><\/td><\/tr><tr><td>alfa-N-acetylogalaktozaminidaza<\/td><td>Choroba Schindlera\/Kanzakiego<\/td><td>LSD<\/td><td>Fluorymetria<\/td><td><em>NAGA<\/em><\/td><\/tr><tr><td>palmitoilo-bia\u0142ko-tioesteraza<\/td><td>Choroba Santavuori-Haltia<\/td><td>NCL<\/td><td>Fluorymetria<\/td><td><em>PPT1<\/em><\/td><\/tr><tr><td>tripeptydylopeptydaza<\/td><td>Choroba Jansky&#039;ego-Bielschowskiego<\/td><td>NCL<\/td><td>Fluorymetria<\/td><td><em>TPP1<\/em><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Biomarker metaboliczny<\/th><th>Choroba\/Zesp\u00f3\u0142<\/th><th>Rodzaj choroby<\/th><th>Metoda wykrywania<\/th><th>Gen<\/th><\/tr><\/thead><tbody><tr><td>glukozylosfingozyna (lizo-Gb1)<\/td><td>Choroba Gauchera<\/td><td>LSD<\/td><td>Tandem-MS<\/td><td><em>GBA, PSAP<\/em><\/td><\/tr><tr><td>triheksozyd lizoceramidu (lizo-Gb3)<\/td><td>Choroba Fabry&#039;ego<\/td><td>LSD<\/td><td>Tandem-MS<\/td><td><em>GLA, PSAP<\/em><\/td><\/tr><tr><td>lizo-SM-509<\/td><td>Choroba Niemanna-Picka typu A\/B i typu C<\/td><td>LSD<\/td><td>Tandem-MS<\/td><td><em>SMPD1, NPC1, NPC2<\/em><\/td><\/tr><tr><td>3-O-metylodopa (3-OMD)<\/td><td>Niedob\u00f3r AADC<\/td><td>neurologiczny<\/td><td>Tandem-MS<\/td><td><em>DDC<\/em><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">Historia sukcesu: Lyso-Gb1 jako najskuteczniejszy biomarker choroby Gauchera<\/h2>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">Lyso-Gb1 zosta\u0142 zidentyfikowany jako najdok\u0142adniejszy biomarker choroby Gauchera (GD) <sup>5<\/sup> . Z czu\u0142o\u015bci\u0105 i swoisto\u015bci\u0105 100% (patrz poni\u017cej) jest to optymalny biomarker umo\u017cliwiaj\u0105cy czu\u0142\u0105 i wiarygodn\u0105 diagnoz\u0119 GD. Dane pacjent\u00f3w dowodz\u0105 r\u00f3wnie\u017c, \u017ce ilo\u015bciowe oznaczenie tego biomarkera mo\u017ce s\u0142u\u017cy\u0107 jako bezpo\u015bredni wska\u017anik obci\u0105\u017cenia chorob\u0105 i odpowiedzi na leczenie w celu monitorowania <sup>GD.5<\/sup><\/p>\n\n\n\n<h5 class=\"wp-block-heading\">OZNACZANIE ILO\u015aCIOWE LYSO-GB1 U PACJENT\u00d3W Z CHOROB\u0104 GAUCHERA I NOSICIELI<\/h5>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"802\" height=\"432\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-QUANTIFICATION.webp\" alt=\"\" class=\"wp-image-3416\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-QUANTIFICATION.webp 802w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-QUANTIFICATION-768x414.webp 768w\" sizes=\"auto, (max-width: 802px) 100vw, 802px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Czu\u0142o\u015b\u0107 i swoisto\u015b\u0107 100% Lyso-Gb1 zapewniaj\u0105 najwy\u017csz\u0105 dok\u0142adno\u015b\u0107 identyfikacji pacjenta i optymaln\u0105 diagnoz\u0119.<\/p>\n\n\n\n<h5 class=\"wp-block-heading\">POZIOMY LYSO-GB1 U PACJENT\u00d3W Z CHOROB\u0104 GAUCHERA PODCZAS TERAPII (N=19, \u015aREDNIA \u0394T POMI\u0118DZY T1\u2013T5 = 6 TYGODNI)<\/h5>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"806\" height=\"393\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-LEVELS.webp\" alt=\"\" class=\"wp-image-3415\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-LEVELS.webp 806w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_genetic_testing_200414-biomarker-LYSO-GB1-LEVELS-768x374.webp 768w\" sizes=\"auto, (max-width: 806px) 100vw, 806px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Poziom Lyso-Gb1 znacz\u0105co i szybko wzrasta w punkcie czasowym T5 po wymuszonej przerwie w leczeniu z powodu czasowego braku dost\u0119pno\u015bci enzymatycznej terapii zast\u0119pczej. Tym samym Lyso-Gb1 dowodzi swoich doskona\u0142ych mo\u017cliwo\u015bci w monitorowaniu choroby Gauchera.<\/p>\n\n\n\n<h5 class=\"wp-block-heading\">Odniesienia<\/h5>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph translation-block\"><sup>1<\/sup> Badania biomarker\u00f3w\/enzym\u00f3w uzupe\u0142niaj\u0105ce wspomagaj\u0105ce klasyfikacj\u0119 nieznanych i patogennych wariant\u00f3w.<br> <sup>2<\/sup> Wittmann, Judit i in. \u201eBadania przesiewowe noworodk\u00f3w w kierunku chor\u00f3b spichrzeniowych lizosom\u00f3w na W\u0119grzech\u201c. JIMD Reports-Case and Research Reports, 2012\/3. Springer, Berlin, Heidelberg, 2012. 117-125.<br> <sup>3<\/sup> Burlina, Alberto B. i in. \u201eBadanie noworodk\u00f3w w kierunku chor\u00f3b spichrzeniowych lizosom\u00f3w metod\u0105 tandemowej spektrometrii masowej w p\u00f3\u0142nocno-wschodnich W\u0142oszech\u201c. Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism 41.2 (2018): 209-219.<br> <sup>4<\/sup> Platt, Frances M. i in. \u201eChoroby spichrzeniowe lizosom\u00f3w\u201c. Nature Reviews Disease Primers 4.1 (2018): 1-25.<br> <sup>5<\/sup> Elstein, Deborah i in. \u201eRedukcja glukozylosfingozyny (lyso-Gb1) u pacjent\u00f3w nieleczonych wcze\u015bniej i wcze\u015bniej leczonych, otrzymuj\u0105cych welagluceraz\u0119 alfa w chorobie Gauchera typu 1: dane z bada\u0144 klinicznych fazy 3\u201c. Molecular genetics and metabolism 122.1-2 (2017): 113-120.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<h5 class=\"wp-block-heading\">Zasoby<\/h5>\n\n\n\n<h4 class=\"wp-block-heading\">Przydatne linki<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.centogene.com\/pl\/diagnostyka\/obszary-kliniczne\/zaburzenia-metaboliczne\/\" data-type=\"clinical-areas\" data-id=\"801\">Badania metaboliczne<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h3 class=\"wp-block-heading translation-block\">Zam\u00f3w CentoMetabolic <sup>\u00ae<\/sup> MOx<\/h3>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&amp;query=centometabolic%20mox\">Zam\u00f3w teraz<\/a><\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h3 class=\"wp-block-heading\">Zam\u00f3w test biomarker\u00f3w\/enzym\u00f3w<\/h3>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&amp;productCategory=7\">Zam\u00f3w teraz<\/a><\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h3 class=\"wp-block-heading\">Zam\u00f3w test portfela MOx<\/h3>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&amp;query=mox\">Zam\u00f3w teraz<\/a><\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n<section class=\"bloque-personalizado bloque-cta-texto estilo-default\" >\n    <div class=\"container\"> \n                    <div class=\"image-wrapper\" style=\"background-image:url(https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene_transcriptomics_multiomics_offering_20230918_2800_4_892e5e6e08-1500x844.jpg)\">\n                <!--<img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene_transcriptomics_multiomics_offering_20230918_2800_4_892e5e6e08-1500x844.jpg\" alt=\"CentoXome MOx 2.0 Including RNA Sequencing Is Now Available\" \/>-->\n            <\/div>\n                <div class=\"row\">\n                        <div class=\"col-12 col-md-6 animation fadeLeft text-wrapper\">\n                <p class=\"bl-pretitulo\">MOx 2.0<\/p>                <div class=\"bl-titulo\">CentoXome MOx 2.0 z funkcj\u0105 sekwencjonowania RNA jest ju\u017c dost\u0119pny<\/div>\n\n                <p class=\"bl-texto\">Wszystkie korzy\u015bci i jako\u015b\u0107 CentoGenome w zaledwie 5 dni roboczych<\/p>                                <div class=\"mt-0 mb-3\">\n                    <a href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&#038;query=CentoGenome%20MOx%202.0&#038;productCategory=11\"\n                     target=\"_blank\"     \n                    class=\"btn btn-primary animation opacity delay-2\">Dowiedz si\u0119 wi\u0119cej<\/a>\n                <\/div>\n                            <\/div>\n                    <\/div> \n    <\/div>  \n<\/section>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\r\n\r\n\r\n<section class=\"bloque-tabs-resources\" id=\"tabs-group-914\">\r\n<h2 class=\"text-center mt-0\">Powi\u0105zane zasoby<\/h2>\r\n    <div class=\"tab-content\" id=\"tab-content\">\r\n        <div class=\"acf-innerblocks-container\">\r\n                        \r\n            <div class=\"tab-link\"  id=\"tab-link-downloads-914\" >\r\n                <a href=\"#tab-body-downloads-914\"  data-id=\"914\">\r\n                    Pobieranie                <\/a>\r\n            <\/div>\r\n            \r\n\r\n                        <div class=\"tab-body  bloque-noticias bloque-tabs-resources-downloads\" id=\"tab-body-downloads-914\" >\r\n            <div  class=\"row\">                        <article class=\"col-xl-4 col-md-6 col-12\">\r\n                        <div class=\"row bl-texto\">\r\n                            <div class=\"bl-datos col-md-3 col-3\"> \r\n                                                                <img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2023\/10\/CentoXome_MOx_Case_Study_Niemann-Pick-Disease_V1.4eng_20230801-pdf-400x400.jpg\" alt=\"CentoXome MOx zdiagnozowa\u0142 chorob\u0119 Niemanna-Picka typu C1\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">CentoXome MOx zdiagnozowa\u0142 chorob\u0119 Niemanna-Picka typu C1<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                <p>Demonstracja mo\u017cliwo\u015bci wielowymiarowego podej\u015bcia CENTOGENE w celu szybkiej i ostatecznej diagnozy<\/p>                                <\/div>\r\n                                \r\n                                <div class=\"bl-links\">\r\n                                                          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holistyczny obraz.                                    <div class=\"bl-fecha\">\r\n                                     <time class=\"updated\" datetime=\"2022-03-18\" pubdate>18 marca 2022 r.<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/pl\/topic\/metabolic-disorders\/\" class=\"cat-link\">Zaburzenia metaboliczne<\/a><a href=\"https:\/\/www.centogene.com\/pl\/topic\/wes\/\" class=\"cat-link\">WES<\/a><a href=\"https:\/\/www.centogene.com\/pl\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><a href=\"https:\/\/www.centogene.com\/pl\/topic\/multiomics\/\" class=\"cat-link\">Multiomika<\/a><\/div>  \r\n                                    <a href=\"https:\/\/www.centogene.com\/pl\/webinar\/mox-advancing-rare-disease-patient-care-with-multiomic-solutions\/\" rel=\"bookmark\" title=\"MOx \u2013 Rozw\u00f3j opieki nad pacjentami z chorobami rzadkimi dzi\u0119ki rozwi\u0105zaniom multiomicznym\" class=\"btn btn-2\">Obejrzyj teraz<\/a>\r\n\r\n                                <\/div>\r\n                            <\/div>\r\n                        <\/article>\r\n                                            <article class=\"col-xl-4 col-md-6 col-12\">\r\n                            <div class=\"item-noticia\">\r\n\r\n                                <div class=\"bl-texto\">            \r\n                                    <a href=\"https:\/\/www.centogene.com\/pl\/webinar\/new-centoxome-convirtiendo-nuestra-experiencia-en-su-ventaja\/\" rel=\"bookmark\" title=\"NOWO\u015a\u0106 CentoXome\u00ae: convirtiendo nuestra experiencia en su ventaja\" class=\"bl-enlace\">\r\n                                    <h4 class=\"bl-titulo\">NOWO\u015a\u0106 CentoXome\u00ae: convirtiendo nuestra experiencia en su ventaja<\/h4>\r\n                                    <\/a>\r\n                                    Los oradores del webinar, la Dra. Pilar Guatibonza, Clinical Genetic Liaison CENTOGENE, el Dr. Carlos Manrique, Gerente Regional de Ventas en M\u00e9xico CENTOGENE, discuten el poder del NEW CentoXome en el entorno del diagn\u00f3stico cl\u00ednico y comparten conocimientos sobre los \u00faltimos \u00e9xitos de diagn\u00f3stico a trav\u00e9s de nuestros \u00faltimos estudios de casos.                                    <div class=\"bl-fecha\">\r\n                                     <time class=\"updated\" datetime=\"2021-11-30\" pubdate>30 listopada 2021<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/pl\/topic\/biomarker\/\" class=\"cat-link\">Biomarker<\/a><a href=\"https:\/\/www.centogene.com\/pl\/topic\/metabolic-disorders\/\" class=\"cat-link\">Zaburzenia metaboliczne<\/a><\/div>  \r\n                                    <a href=\"https:\/\/www.centogene.com\/pl\/webinar\/new-centoxome-convirtiendo-nuestra-experiencia-en-su-ventaja\/\" rel=\"bookmark\" title=\"NOWO\u015a\u0106 CentoXome\u00ae: convirtiendo nuestra experiencia en su ventaja\" class=\"btn btn-2\">Obejrzyj teraz<\/a>\r\n\r\n                                <\/div>\r\n                            <\/div>\r\n                        <\/article>\r\n                                    \r\n                    <div class=\"text-center\">\r\n                                            <a href=\"\/pl\/zasoby\/webinaria\/\" class=\"btn btn-primary\">Zobacz wszystkie webinaria<\/a>\r\n                                        <\/div>\r\n\r\n                <\/div>                   \r\n\r\n            <\/div>\r\n            \r\n\r\n\r\n                        <div class=\"tab-link\"  id=\"tab-link-publications-914\" >\r\n                <a href=\"#tab-body-publications-914\"  data-id=\"914\">\r\n                    Publikacje naukowe                <\/a>\r\n            <\/div>\r\n\r\n           \r\n            <div class=\"tab-body bloque-noticias\" id=\"tab-body-publications-914\" >\r\n                <div  class=\"row\">                            <article class=\"col-xl-4 col-md-6 col-12\">\r\n                                <div class=\"item-noticia\">\r\n                                    <div class=\"bl-texto\">       \r\n                \r\n                                    <h4 class=\"bl-titulo\">Encyklopedia spektrometrii masowej i lipidomiki<\/h4>\r\n                                    <p><strong>Spektrometria mas (MS) to najnowocze\u015bniejsza technika identyfikacji i ilo\u015bciowego oznaczania cz\u0105steczek lipid\u00f3w. W niniejszym badaniu przeanalizowano to narz\u0119dzie, aby utorowa\u0107 drog\u0119 do lepszych bada\u0144 i poprawy wynik\u00f3w zdrowotnych pacjent\u00f3w na ca\u0142ym \u015bwiecie.<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                        <div class=\"bl-fecha\">\r\n                                         <time class=\"updated\" datetime=\"2022-06-23\" pubdate>23 cze 2022<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/pl\/topic\/metabolic-disorders\/\" class=\"cat-link\">Zaburzenia metaboliczne<\/a><a href=\"https:\/\/www.centogene.com\/pl\/topic\/biodatabank\/\" class=\"cat-link\">Biobank<\/a><a href=\"https:\/\/www.centogene.com\/pl\/topic\/multiomics\/\" class=\"cat-link\">Multiomika<\/a><\/div>  \r\n                                                    \r\n                                        <a href=\"https:\/\/www.mdpi.com\/2218-1989\/12\/7\/584\/htm\" rel=\"bookmark\" title=\"Encyklopedia spektrometrii masowej i lipidomiki\" class=\"btn btn-2\" target=\"_blank\">Przeczytaj publikacj\u0119 <\/a>\r\n                                                                        <\/div>\r\n                                <\/div>\r\n                            <\/article>\r\n                                                <article class=\"col-xl-4 col-md-6 col-12\">\r\n                                <div class=\"item-noticia\">\r\n                                    <div class=\"bl-texto\">       \r\n                \r\n                                    <h4 class=\"bl-titulo\">Multiomiczne podej\u015bcie do diagnozowania pacjent\u00f3w i przyspieszania leczenia<\/h4>\r\n                                    <p><strong>Podej\u015bcie integruj\u0105ce testy genetyczne i biochemiczne jako narz\u0119dzie diagnostyczne pierwszego rzutu u pacjent\u00f3w z dziedzicznymi zaburzeniami metabolicznymi.<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                            <div class=\"bl-autores\">\r\n                                        Autorzy: Bertoli-Avella, Aida M., MD                                        <\/div>\r\n                                                                        <div class=\"bl-fecha\">\r\n                                         <time class=\"updated\" datetime=\"2022-06-22\" pubdate>22 cze 2022<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/pl\/topic\/biomarker\/\" class=\"cat-link\">Biomarker<\/a><a href=\"https:\/\/www.centogene.com\/pl\/topic\/metabolic-disorders\/\" class=\"cat-link\">Zaburzenia metaboliczne<\/a><a href=\"https:\/\/www.centogene.com\/pl\/topic\/multiomics\/\" class=\"cat-link\">Multiomika<\/a><\/div>  \r\n                                                    \r\n                                        <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoMetabolic_MOx_Publication_202206_Web_20220623.pdf\" rel=\"bookmark\" title=\"Multiomiczne podej\u015bcie do diagnozowania pacjent\u00f3w i przyspieszania leczenia\" class=\"btn btn-2\" target=\"_self\">Przeczytaj publikacj\u0119 (PDF)<\/a>\r\n                                                                        <\/div>\r\n                                <\/div>\r\n                            <\/article>\r\n                                                <article class=\"col-xl-4 col-md-6 col-12\">\r\n                                <div class=\"item-noticia\">\r\n                                    <div class=\"bl-texto\">       \r\n                \r\n                                    <h4 class=\"bl-titulo\">Szersze zastosowanie biomarkera rzadkich chor\u00f3b<\/h4>\r\n                                    <p><strong>Ilo\u015bciowa ocena profilu moczowego biomarker\u00f3w u pacjent\u00f3w z chorob\u0105 Gauchera typu 1 z wykorzystaniem tandemowej spektrometrii masowej<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                            <div class=\"bl-autores\">\r\n                                        Autor(zy): Curado, Filipa                                        <\/div>\r\n                                                                        <div class=\"bl-fecha\">\r\n                                         <time class=\"updated\" datetime=\"2022-06-8\" pubdate>08 cze 2022<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/pl\/topic\/metabolic-disorders\/\" class=\"cat-link\">Zaburzenia metaboliczne<\/a><a href=\"https:\/\/www.centogene.com\/pl\/topic\/biomarker\/\" class=\"cat-link\">Biomarker<\/a><\/div>  \r\n                                                    \r\n                                        <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35741225\/\" rel=\"bookmark\" title=\"Szersze zastosowanie biomarkera rzadkich chor\u00f3b\" class=\"btn btn-2\" target=\"_blank\">Przeczytaj publikacj\u0119 <\/a>\r\n                                                                        <\/div>\r\n                                <\/div>\r\n                            <\/article>\r\n                                         <div class=\"text-center\">\r\n                                            <a href=\"\/pl\/zasoby\/publikacje-naukowe\/\" class=\"btn btn-primary\">Zobacz wszystkie publikacje<\/a>\r\n                                        <\/div>\r\n                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