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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
http://hdl.handle.net/10091/3714
http://hdl.handle.net/10091/3714dbcece4f-473c-4f0b-9260-5fc7510da77c
名前 / ファイル | ライセンス | アクション |
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2009-12-04 | |||||
タイトル | ||||||
言語 | ja | |||||
タイトル | 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 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | A Case of Infantile Hypophosphatasia with Poor Body Weight Gain at One Month Old | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | infantile hypophosphatasia | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | hypercalcemia | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | tissue non-specific alkaline phosphatase gene | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | compound heterozygote | |||||
キーワード | ||||||
言語 | ja | |||||
主題Scheme | Other | |||||
主題 | 乳児型低ホスファターゼ症 | |||||
キーワード | ||||||
言語 | ja | |||||
主題Scheme | Other | |||||
主題 | 高カルシウム血症 | |||||
キーワード | ||||||
言語 | ja | |||||
主題Scheme | Other | |||||
主題 | 組織非特異的アルカリホスファターゼ遺伝子 | |||||
キーワード | ||||||
言語 | ja | |||||
主題Scheme | Other | |||||
主題 | 複合ヘテロ接合体 | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | journal article | |||||
著者 |
小口, 弘子
× 小口, 弘子× 日高, 義彦× 塩原, 正明× 小池, 健一 |
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出版者 | ||||||
出版者 | 信州医学会 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 信州医学雑誌 55(6): 333-337(2007) | |||||
書誌情報 |
信州医学雑誌 巻 55, 号 6, p. 333-337, 発行日 2007-12-10 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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. | |||||
資源タイプ(コンテンツの種類) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Article | |||||
ISSN | ||||||
収録物識別子タイプ | PISSN | |||||
収録物識別子 | 0037-3826 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00120815 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.11441/shinshumedj.55.333 | |||||
関連名称 | 10.11441/shinshumedj.55.333 | |||||
出版タイプ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 |