{"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":"Oznaczenia enzym\u00f3w i biomarker\u00f3w metabolicznych"},"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>Oznaczenia enzym\u00f3w i biomarker\u00f3w metabolicznych<\/h1>\r\n          <h2 class=\"bl-texto\">Torujemy drog\u0119 do spersonalizowanych terapii. \u0141\u0105czymy informacje z genomiki, proteomiki i metabolomiki, aby wspiera\u0107 wczesn\u0105 diagnostyk\u0119, prognozowanie i monitorowanie leczenia.<\/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\">Przyspieszamy rozpoznanie i wspieramy wyb\u00f3r leczenia<\/h2>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\">Idealny biomarker odgrywa kluczow\u0105 rol\u0119 we wczesnej diagnostyce, prognozowaniu i monitorowaniu leczenia okre\u015blonej choroby, poniewa\u017c odzwierciedla obci\u0105\u017cenie pacjenta chorob\u0105.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Zastosowanie biomarkera jako narz\u0119dzia diagnostycznego lub do regularnego monitorowania post\u0119pu choroby mo\u017ce mie\u0107 dla pacjent\u00f3w du\u017c\u0105 warto\u015b\u0107 kliniczn\u0105. Biomarkery mog\u0105 s\u0142u\u017cy\u0107 do oceny skuteczno\u015bci terapii, a nawet jako wskaz\u00f3wka przy ustalaniu dawkowania.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">CENTOGENE zapewnia szybkie ustalenie rozpoznania dziedzicznych chor\u00f3b rzadkich dzi\u0119ki najszerszej ofercie bada\u0144 genetycznych, uzupe\u0142nionej o oznaczenia biomarker\u00f3w i badania enzymatyczne, a tak\u017ce interpretacji wynik\u00f3w najwy\u017cszej klasy.<\/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\">Co wyr\u00f3\u017cnia biomarkery 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\">Prostsza logistyka i analiza pr\u00f3bek suchej kropli krwi (DBS) dzi\u0119ki technologii kart bibu\u0142owych z oznakowaniem CE (CentoCard\u00ae)<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\">Wsparcie w doborze indywidualnego schematu leczenia z my\u015bl\u0105 o lepszych wynikach<\/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\">Oznaczenia aktywno\u015bci enzym\u00f3w i biomarker\u00f3w mog\u0105 by\u0107 wykorzystywane w diagnostyce chor\u00f3b oraz do walidacji w procesie opracowywania nowych lek\u00f3w. Enzymy i biomarkery biochemiczne cz\u0119sto odpowiadaj\u0105 za kluczowe funkcje w procesach fizjologicznych. Dlatego s\u0105 skutecznym narz\u0119dziem do wykrywania wczesnych objaw\u00f3w chor\u00f3b oraz monitorowania ich przebiegu.<\/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>Wsparcie w doborze schematu leczenia<\/li>\n\n\n\n<li>Badanie grup ryzyka<\/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\">Oznaczenia biomarker\u00f3w i enzym\u00f3w<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Monitorowanie przebiegu choroby<\/li>\n<li>Ocena post\u0119pu choroby i odpowiedzi 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>Badanie pierwszego wyboru w z\u0142o\u017conych i wielouk\u0142adowych chorobach 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\">Oznaczenie biomarkera lub enzymu + 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>Wsparcie w podejmowaniu kompleksowych decyzji terapeutycznych<\/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 + oznaczenie biomarkera lub enzymu<\/h3>\n                            <ul class=\"t3m-List t3m-List--unordered\">\n<li>Podejrzenie choroby metabolicznej<\/li>\n<li>Z\u0142o\u017cone, nak\u0142adaj\u0105ce si\u0119 objawy przy szerokiej diagnostyce r\u00f3\u017cnicowej<\/li>\n<li>Nieprawid\u0142owe wyniki bada\u0144 przesiewowych noworodk\u00f3w<\/li>\n<li>Hospitalizacja na oddziale intensywnej terapii noworodka<\/li>\n<li>Objawy neurologiczne o nieznanej etiologii<\/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\">Co wyr\u00f3\u017cnia biomarkery CENTOGENE?<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u0141atwa analiza z u\u017cyciem technologii suchej kropli krwi (DBS)<\/li>\n\n\n\n<li>Powi\u0105zanie z objawami klinicznymi<\/li>\n\n\n\n<li>\u0141atwe i wiarygodne oznaczanie ilo\u015bciowe w pr\u00f3bkach klinicznych<\/li>\n\n\n\n<li>Wiarygodne odzwierciedlenie nasilenia choroby<\/li>\n\n\n\n<li>Wyja\u015bnienie molekularnej patogenezy choroby<\/li>\n\n\n\n<li>Odzwierciedlenie efekt\u00f3w leczenia<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">Szybkie i precyzyjne strategie diagnostyczne<\/h2>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">W chorobach z\u0142o\u017conych i z\u0142o\u017conych szlakach chorobowych samo badanie genetyczne zwykle nie dostarcza wszystkich informacji potrzebnych do ustalenia ostatecznego rozpoznania. Dlatego <strong>CENTOGENE jako pionier wprowadzi\u0142o \u0142\u0105czenie r\u00f3\u017cnych bada\u0144<\/strong>, np. oznacze\u0144 pojedynczych biomarker\u00f3w i profili wielu biomarker\u00f3w, wraz z jasnymi zaleceniami dotycz\u0105cymi strategii diagnostycznych<sup>1<\/sup>. Takie strategie daj\u0105 lekarzom i pacjentom szybsze, bardziej wiarygodne i pe\u0142niejsze rozwi\u0105zanie \u2013 kluczowe odpowiedzi, uzyskane na czas, wtedy, gdy s\u0105 najbardziej potrzebne.<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Rodzaj badania<\/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 analiza szerokiego zakresu gen\u00f3w, a nast\u0119pnie badania biochemiczne<sup>1<\/sup><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 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\">Unikatowe do\u015bwiadczenie CENTOGENE w diagnostyce chor\u00f3b metabolicznych<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Prze\u0142om w post\u0119powaniu w chorobach metabolicznych<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Choroby metaboliczne to grupa rzadkich chor\u00f3b dziedzicznych, w kt\u00f3rych dochodzi do nieprawid\u0142owego gromadzenia si\u0119 r\u00f3\u017cnych metabolit\u00f3w w kom\u00f3rkach. Prowadzi to do zaburzenia funkcji organelli kom\u00f3rkowych, kt\u00f3rych dotyczy ten proces.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Podgrup\u0105 chor\u00f3b metabolicznych s\u0105 lizosomalne choroby spichrzeniowe (LSD), kt\u00f3re \u0142\u0105cznie wyst\u0119puj\u0105 z cz\u0119sto\u015bci\u0105 1 na 5000 \u017cywych urodze\u0144. Najcz\u0119stsze z nich to choroba Fabry\u2019ego i choroba 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\">CENTOGENE opracowa\u0142o wiele swoistych biomarker\u00f3w dla wybranych lizosomalnych chor\u00f3b spichrzeniowych, w kt\u00f3rych dost\u0119pne s\u0105 mo\u017cliwo\u015bci leczenia. Na przyk\u0142ad lizo-Gb1 zosta\u0142 zidentyfikowany jako najskuteczniejszy biomarker choroby Gauchera.<sup>5<\/sup> Wszystkie analizy mo\u017cna wykona\u0107 z suchej kropli krwi pobranej na kart\u0119 CentoCard<sup>\u00ae<\/sup>. Wspieraj\u0105 one wczesn\u0105 diagnostyk\u0119 oraz monitorowanie post\u0119pu choroby i leczenia w okre\u015blonej chorobie w najbardziej skuteczny spos\u00f3b.<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Enzym<\/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>2-sulfataza iduronianu<\/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>tioesteraza palmitoilowo-bia\u0142kowa<\/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\">Studium przypadku: lizo-Gb1 \u2013 najskuteczniejszy biomarker choroby Gauchera<\/h2>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">Lizo-Gb1 zosta\u0142 zidentyfikowany jako najbardziej precyzyjny biomarker choroby Gauchera (GD)<sup>5<\/sup>. Dzi\u0119ki czu\u0142o\u015bci i swoisto\u015bci wynosz\u0105cym 100 % (patrz poni\u017cej) jest optymalnym biomarkerem do czu\u0142ej i wiarygodnej diagnostyki GD. Dane pacjent\u00f3w dowodz\u0105 r\u00f3wnie\u017c, \u017ce oznaczenie ilo\u015bciowe tego biomarkera mo\u017ce s\u0142u\u017cy\u0107 jako bezpo\u015bredni wska\u017anik nasilenia choroby i odpowiedzi na leczenie w monitorowaniu GD.<sup>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\">St\u0119\u017cenie lizo-Gb1 istotnie i szybko wzrasta w punkcie czasowym t5, po wymuszonej przerwie w leczeniu spowodowanej czasow\u0105 niedost\u0119pno\u015bci\u0105 enzymatycznej terapii zast\u0119pczej. Potwierdza to bardzo dobr\u0105 przydatno\u015b\u0107 lizo-Gb1 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\">Centrum wiedzy<\/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 badanie 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 oznaczenie biomarkera lub enzymu<\/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 badanie z oferty 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-325\">\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-325\" >\r\n                <a href=\"#tab-body-downloads-325\"  data-id=\"325\">\r\n                    Do pobrania                <\/a>\r\n            <\/div>\r\n            \r\n\r\n                        <div class=\"tab-body  bloque-noticias bloque-tabs-resources-downloads\" id=\"tab-body-downloads-325\" >\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\">Choroby 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\">Choroby 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-325\" >\r\n                <a href=\"#tab-body-publications-325\"  data-id=\"325\">\r\n                    Publikacje naukowe                <\/a>\r\n            <\/div>\r\n\r\n           \r\n            <div class=\"tab-body bloque-noticias\" id=\"tab-body-publications-325\" >\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\">Choroby 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\/multiomics\/\" class=\"cat-link\">Multiomika<\/a><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\">Choroby metaboliczne<\/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\/biomarker\/\" class=\"cat-link\">Biomarker<\/a><a href=\"https:\/\/www.centogene.com\/pl\/topic\/metabolic-disorders\/\" class=\"cat-link\">Choroby metaboliczne<\/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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