{"created":"2021-03-01T06:08:02.658661+00:00","id":4212,"links":{},"metadata":{"_buckets":{"deposit":"3ed58f96-532a-44a2-bb08-6880fc338800"},"_deposit":{"id":"4212","owners":[],"pid":{"revision_id":0,"type":"depid","value":"4212"},"status":"published"},"_oai":{"id":"oai:soar-ir.repo.nii.ac.jp:00004212","sets":["461:463:464:509"]},"author_link":["9607","9608","9609","9610"],"item_1628147817048":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_6_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2007-12-10","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"6","bibliographicPageEnd":"337","bibliographicPageStart":"333","bibliographicVolumeNumber":"55","bibliographic_titles":[{"bibliographic_title":"信州医学雑誌"}]}]},"item_6_description_20":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Hypophosphatasia is a hereditary autosomal recessive disease characterized by a defect in tissuenonspecific alkaline phosphatase (TNSALP) activities. A one-month-old boy showed poor weight gain. His body weight and height were 3,202 g (-2.7SD) and 53 cm (-1.4SD), respectively, 7 weeks after birth. Serum calcium level was very high with a value of 17.6 mg/dl. Serum alkaline phosphatase level was 30 IU/l, while bone-type ALP was undetectable. Urine phosphoethanolamine, one of the substrates of ALP, was 3,056.8 nmol/mgCr. Urine Ca/Cr ratio was 1.4. Radiological findings showed osteopenia of cranial bones and irregular ossification of metaphyses of long bones. He was diagnosed with infantile type hypophosphatasia. He was treated with diuretics, a low Ca diet and calcitonin to decrease his serum calcium level. Appropriate body weight gain was not achieved even after the serum Ca level improved. He repeatedly suffered respiratory tract infection and died from pneumonia at 6-months.Analysis of TNSALP gene of the patient revealed compound heterozygous mutations of K207E and T1559del.","subitem_description_type":"Abstract"}]},"item_6_description_30":{"attribute_name":"資源タイプ（コンテンツの種類）","attribute_value_mlt":[{"subitem_description":"Article","subitem_description_type":"Other"}]},"item_6_description_5":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"信州医学雑誌 55(6): 333-337(2007)","subitem_description_type":"Other"}]},"item_6_publisher_4":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"信州医学会"}]},"item_6_relation_48":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.11441/shinshumedj.55.333"}],"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.11441/shinshumedj.55.333","subitem_relation_type_select":"DOI"}}]},"item_6_source_id_35":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0037-3826","subitem_source_identifier_type":"PISSN"}]},"item_6_source_id_40":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00120815","subitem_source_identifier_type":"NCID"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"小口, 弘子","creatorNameLang":"ja"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"日高, 義彦","creatorNameLang":"ja"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"塩原, 正明","creatorNameLang":"ja"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"小池, 健一","creatorNameLang":"ja"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2015-09-24"}],"displaytype":"detail","filename":"Shinshu_Med55-6-04.pdf","filesize":[{"value":"1.2 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Shinshu_Med55-6-04.pdf","url":"https://soar-ir.repo.nii.ac.jp/record/4212/files/Shinshu_Med55-6-04.pdf"},"version_id":"e7e8215d-5b68-4a50-8e3a-01561086d668"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"infantile hypophosphatasia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"hypercalcemia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"tissue non-specific alkaline phosphatase gene","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"compound heterozygote","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"乳児型低ホスファターゼ症","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"高カルシウム血症","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"組織非特異的アルカリホスファターゼ遺伝子","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"複合ヘテロ接合体","subitem_subject_language":"ja","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"１カ月健診の体重増加不良を契機に発見された乳児型低ホスファターゼ症の１例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"１カ月健診の体重増加不良を契機に発見された乳児型低ホスファターゼ症の１例","subitem_title_language":"ja"},{"subitem_title":"A Case of Infantile Hypophosphatasia with Poor Body Weight Gain at One Month Old","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["509"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2009-12-04"},"publish_date":"2009-12-04","publish_status":"0","recid":"4212","relation_version_is_last":true,"title":["１カ月健診の体重増加不良を契機に発見された乳児型低ホスファターゼ症の１例"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-03-06T01:14:07.332152+00:00"}