{"id":604,"date":"2025-02-25T16:02:54","date_gmt":"2025-02-25T16:02:54","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=604"},"modified":"2025-04-03T17:35:23","modified_gmt":"2025-04-03T17:35:23","slug":"%e3%83%8b%e3%83%bc%e3%83%9e%e3%83%b3%e3%83%94%e3%83%83%e3%82%af%e3%82%bf%e3%82%a4%e3%83%97c","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/jp\/resources\/key-diseases\/niemann-pick-type-c\/","title":{"rendered":"\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30afC\u578b"},"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\/02\/csm_centogene-diagnostics-priority-disease-03_2fd66ba626.webp\" alt=\"csm_centogene-diagnostics-priority-disease-03_2fd66ba626\" \/>\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>\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30afC\u578b<\/h1>\r\n          <h2 class=\"bl-texto\">\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b\uff08NPC\uff09\u306f\u3001\u9032\u884c\u304c\u9045\u3044\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u30ea\u30bd\u30bd\u30fc\u30e0\u3078\u306e\u8102\u8cea\u306e\u84c4\u7a4d\u3067\u3042\u308b\u3002. <\/h2>                            <\/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\/jp\/\">\u5bb6<\/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\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b\u3068\u306f\u4f55\u3067\u3059\u304b\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b\uff08NPC\uff09\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u3078\u306e\u8102\u8cea\u306e\u84c4\u7a4d\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3059\u308b\u3001\u9032\u884c\u306e\u9045\u3044\u75be\u60a3\u3067\u3059\u3002\u75c7\u72b6\u306f\u5e74\u9f62\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u4e73\u5150\u671f\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u5185\u81d3\u306b\u9650\u3089\u308c\u3001\u809d\u813e\u816b\u3001\u9ec4\u75b8\u3001\u305d\u3057\u3066\uff08\u5834\u5408\u306b\u3088\u3063\u3066\u306f\uff09\u80ba\u6d78\u6f64\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u4e73\u5150\u671f\u5f8c\u671f\u4ee5\u964d\u306b\u306a\u308b\u3068\u3001\u795e\u7d4c\u75c7\u72b6\u304c\u73fe\u308c\u59cb\u3081\u307e\u3059\u3002\u5178\u578b\u7684\u306a\u75c7\u72b6\u306f\u3001\u5c0f\u5150\u671f\u4e2d\u671f\u304b\u3089\u5f8c\u671f\u306b\u304b\u3051\u3066\u3001\u904b\u52d5\u5931\u8abf\u3001\u5782\u76f4\u6027\u6838\u4e0a\u6027\u773c\u7403\u904b\u52d5\u9ebb\u75fa\u3001\u8a8d\u77e5\u75c7\u306e\u767a\u75c7\u3068\u3068\u3082\u306b\u73fe\u308c\u307e\u3059\u3002\u30b8\u30b9\u30c8\u30cb\u30a2\u3084\u75d9\u6523\u3082\u3088\u304f\u307f\u3089\u308c\u307e\u3059\u3002\u6210\u4eba\u3067\u306f\u3001\u8a8d\u77e5\u75c7\u3084\u7cbe\u795e\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">NPC\u306f\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3059\u308b\u3002\u539f\u56e0\u306f\u3001NPC1\u907a\u4f1d\u5b50\uff08\u75c7\u4f8b\u306e95%\uff09\u307e\u305f\u306fNPC2\u907a\u4f1d\u5b50\uff08\u75c7\u4f8b\u306e5%\uff09\u306e\u3044\u305a\u308c\u304b\u306e\u5909\u7570\u3067\u3042\u308b\u3002.&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">NPC1\u75c7\u4f8b\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u4e00\u5869\u57fa\u591a\u578b\u306b\u3088\u308b\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\u3067\u3042\u308b\u300212 \u3053\u308c\u307e\u3067\u306b\u3001\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b<sup>\u3092<\/sup>\u5f15\u304d\u8d77\u3053\u3059NPC1\u306e\u5909\u7570\u306f511\u7a2e\u985e\u4ee5\u4e0a\u3001NPC2\u306e\u5909\u7570\u306f27\u7a2e\u985e\u4ee5\u4e0a\u5831\u544a\u3055\u308c\u3066\u3044\u308b<sup>\u30023<\/sup><\/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\"   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\">\u75c7\u72b6<\/h5>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u809d\u81d3\u3068\u813e\u81d3\u306e\u816b\u5927\uff08\u809d\u813e\u816b\uff09<\/li>\n\n\n\n<li>\u52d5\u304d\u306e\u5354\u8abf\u304c\u56f0\u96e3\uff08<a href=\"http:\/\/www.childrenshospital.org\/conditions-and-treatments\/conditions\/m\/movement-disorders\/symptoms-and-causes\" target=\"_blank\" rel=\"noreferrer noopener\">\u904b\u52d5\u5931\u8abf<\/a>)<\/li>\n\n\n\n<li>\u7570\u5e38\u306a\u773c\u7403\u904b\u52d5\uff08\u5782\u76f4\u6027\u6838\u4e0a\u6027\u773c\u7403\u904b\u52d5\u9ebb\u75fa\uff09<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\uff08<a href=\"http:\/\/www.childrenshospital.org\/conditions-and-treatments\/conditions\/m\/muscle-weakness-hypotonia\" target=\"_blank\" rel=\"noreferrer noopener\">\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/a>)<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u809d\u75be\u60a3<\/li>\n\n\n\n<li>\u983b\u7e41\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7<\/li>\n\n\n\n<li>\u767a\u8a71\u56f0\u96e3<\/li>\n\n\n\n<li>\u56a5\u4e0b\u56f0\u96e3\u304a\u3088\u3073\u6442\u98df\u56f0\u96e3<\/li>\n\n\n\n<li>\u8a8d\u77e5\u80fd\u529b\u306e\u55aa\u5931<\/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<\/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    <section class=\"bloque-personalizado bloque-cajas-imgs estilo-cajasblancas\" >\n        <div class=\"\"> \n            <div class=\"ref-arrows\" >             <div class=\"caja-wrapper-916 swiper\">\n\n            <div class=\"swiper-wrapper\" >                             \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 caja\">\n                    <div class=\"caja-inner\" >\n                        <a href=\"https:\/\/www.centogene.com\/jp\/%e8%a3%bd%e8%96%ac\/%e8%a3%bd%e8%96%ac%e6%a5%ad%e7%95%8c%e5%90%91%e3%81%91%e3%81%ab%e7%a7%81%e3%81%9f%e3%81%a1%e3%81%8c%e3%81%97%e3%81%a6%e3%81%84%e3%82%8b%e3%81%93%e3%81%a8\/#partners\" target=\"_self\" class=\"\">                        <div class=\"bl-imagen animationNo scalexTop delay-1\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_211118-centogene-images-styleguide-header-04_1a68185bb9-650x400.webp\" class=\"\" alt=\"\" \/> <\/div>                                               \n                        <\/a>                        \n                        <div class=\"caja-text\">\n                            <p class=\"prefijo\">\u88fd\u85ac<\/p>                            <h3 class=\"bl-titulo\">\u30d1\u30fc\u30c8\u30ca\u30fc<\/h3>\n                            <p>CENTOGENE\u306f\u3001\u30d1\u30fc\u30c8\u30ca\u30fc\u4f01\u696d\u3068\u5354\u529b\u3057\u3066\u3001\u30ea\u30fc\u30c9\u5316\u5408\u7269\u3084\u5275\u85ac\u6a19\u7684\u3092\u8fc5\u901f\u306b\u7279\u5b9a\u3057\u3001\u5e0c\u5c11\u75be\u60a3\u6cbb\u7642\u85ac\u958b\u767a\u306e\u30ea\u30b9\u30af\u3092\u4f4e\u6e1b\u3059\u308b\u3053\u3068\u3092\u76ee\u6307\u3057\u3066\u3044\u307e\u3059\u3002.<\/p>\n      \n                                                          <a target=\"_self\" href=\"https:\/\/www.centogene.com\/jp\/%e8%a3%bd%e8%96%ac\/%e8%a3%bd%e8%96%ac%e6%a5%ad%e7%95%8c%e5%90%91%e3%81%91%e3%81%ab%e7%a7%81%e3%81%9f%e3%81%a1%e3%81%8c%e3%81%97%e3%81%a6%e3%81%84%e3%82%8b%e3%81%93%e3%81%a8\/#partners\" class=\"btn btn-primary\">\u30d1\u30fc\u30c8\u30ca\u30fc\u4f01\u696d\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u306f\u3053\u3061\u3089\u3092\u3054\u89a7\u304f\u3060\u3055\u3044<\/a>\n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 delay-2 caja\">\n                    <div class=\"caja-inner\" >\n                        <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_downloads_cheatsheet_V2eng_Print_Web_20200706.pdf\" target=\"_blank\" class=\"\">                        <div class=\"bl-imagen animationNo scalexTop delay-2\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene-patients_what-we-do-for-patients-header-01_5410842a2a-650x400.webp\" class=\"\" alt=\"\" \/> <\/div>                                               \n                        <\/a>                        \n                        <div class=\"caja-text\">\n                            <p class=\"prefijo\">\u60a3\u8005<\/p>                            <h3 class=\"bl-titulo\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/h3>\n                            <p>CENTOGENE\u306f\u3001\u533b\u5e2b\u306e\u6307\u793a\u306b\u3088\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u307f\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u306f\u3001\u3042\u306a\u305f\u306e\u4eba\u751f\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u3092\u5f37\u304f\u304a\u52e7\u3081\u3057\u307e\u3059\u3002\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u53d7\u3051\u308b\u3079\u304d\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u3001\u3042\u306a\u305f\u3068\u3054\u5bb6\u65cf\u306b\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u63d0\u4f9b\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u3068\u305d\u306e\u610f\u5473\u3092\u7406\u89e3\u3059\u308b\u304a\u624b\u4f1d\u3044\u3082\u3044\u305f\u3057\u307e\u3059\u3002.<\/p>\n<p>\u4ee5\u4e0b\u306e\u8cea\u7591\u5fdc\u7b54\u5f62\u5f0f\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3064\u3044\u3066\u533b\u5e2b\u3068\u8a71\u3057\u5408\u3046\u969b\u306e\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n      \n                                                          <a target=\"_blank\" href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_downloads_cheatsheet_V2eng_Print_Web_20200706.pdf\" class=\"btn btn-primary\">\u533b\u5e2b\u306b\u5c0b\u306d\u308b\u3079\u304d\u3053\u3068<\/a>\n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                                    <\/div>\n            <div class=\"swiper-pagination\"><\/div>\n\n          <\/div>\n          <div class=\"swiper-button-prev pre-916\"><\/div>\n          <div class=\"swiper-button-next next-916\"><\/div>   \n                       \n             \n            \n        <\/div>\n    <\/div>  \n<\/section>\n\n\n\n<script>\n    jQuery(document).ready(function(){\n    var swiper = new Swiper(\".caja-wrapper-916\", {\n      slidesPerView: 1,\n      spaceBetween: 10, \n      navigation: {\n        nextEl: \".next-916\",\n        prevEl: \".pre-916\",\n      },\n      \/\/navigation: false,\n      pagination: {\n        el: \".swiper-pagination\",\n        clickable: true\n      },\n      loop: false,\n      autoplay: {\n        delay: 2500,\n        disableOnInteraction: true,\n      },\n      breakpoints: {\n        640: {\n          slidesPerView: 1,\n          spaceBetween: 10,\n        },\n        768: {\n          slidesPerView: 2,\n          spaceBetween: 40,\n        },\n        1024: {\n          slidesPerView: 3,\n          spaceBetween: 40,\n        },\n        1200: {\n          slidesPerView: 3,\n          spaceBetween: 40,\n        },\n      },\n      on: {\n      slideChange: function(){\n          \/\/code\n      }\n    }\n    });\n});\n<\/script>\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                        <div class=\"row\">\r\n                <div class=\"col-12  col-md-8\">                     \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h5 class=\"wp-block-heading\">\u811a\u6ce8<\/h5>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>1<\/sup>Park, Walter D \u4ed6\u300c\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b\u306b\u304a\u3051\u308b58\u500b\u306e\u65b0\u898f\u5909\u7570\u306e\u540c\u5b9a\uff1a\u751f\u5316\u5b66\u7684\u8868\u73fe\u578b\u3068\u306e\u76f8\u95a2\u304a\u3088\u3073NPC1\u306b\u304a\u3051\u308bPTC1\u69d8\u30c9\u30e1\u30a4\u30f3\u306e\u91cd\u8981\u6027\u300dHuman mutation vol. 22,4 (2003): 313-25. doi:10.1002\/humu.10255<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>2<\/sup>Millat, Gilles \u4ed6\u300c\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30afC\u75c5\uff1aNPC1\u304a\u3088\u3073NPC2\u907a\u4f1d\u5b50\u5909\u7570\u306e\u691c\u51fa\u306b\u304a\u3051\u308b\u5909\u6027\u9ad8\u901f\u6db2\u4f53\u30af\u30ed\u30de\u30c8\u30b0\u30e9\u30d5\u30a3\u30fc\u306e\u4f7f\u7528\u3068\u60a3\u8005\u304a\u3088\u3073\u5bb6\u65cf\u306e\u7ba1\u7406\u3078\u306e\u5f71\u97ff\u300d\u5206\u5b50\u907a\u4f1d\u5b66\u3068\u4ee3\u8b1d\u3001\u7b2c86\u5dfb\u30011-2\u53f7\uff082005\u5e74\uff09\uff1a220-32\u9801\u3002doi:10.1016\/j.ymgme.2005.07.007<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><sup>3<\/sup>Chikh, Karim \u4ed6\u300c\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b\uff1a\u81ea\u7136\u767a\u751f\u7684\u306a\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3092\u6709\u3059\u308bNPC2\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7d30\u80de\u5185\u5c40\u5728\u3068\u6a5f\u80fd\u7684\u7279\u5fb4\u4ed8\u3051\u300dHuman mutation vol. 26,1 (2005): 20-8. doi:10.1002\/humu.20173<\/p>\n\n<\/div>\r\n          \r\n                                <\/div>\r\n            <\/div>            \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-contact-info\" >     \n    <h2 class=\"mt-3 mb-5\"><div style=\"margin: 3rem 0 \">\u79c1\u305f\u3061\u306f\u3054\u6848\u5185\u3044\u305f\u3057\u307e\u3059<p style=\"font-size: 1.2rem; margin-top: 1rem; margin-bottom: 1.5rem;\">\u4e16\u754c\u4e2d\u306b\u5e83\u304c\u308b\u30ab\u30b9\u30bf\u30de\u30fc\u30b5\u30dd\u30fc\u30c8\u3068\u5c02\u9580\u5bb6\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304c\u3001\u3042\u3089\u3086\u308b\u6bb5\u968e\u3067\u304a\u5ba2\u69d8\u3092\u30b5\u30dd\u30fc\u30c8\u3044\u305f\u3057\u307e\u3059\u3002.<\/p><a class=\"btn btn-primary\" style=\"margin: 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