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    クマモト ダイガク ゴコウ キネンカン ソウショ ダイ 7シュウ : ショウワキ ノ ダイゴ コウトウガッコウ チョウサ ホウコク 5

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    五高記念館では、これまで延べ85人の五高卒業生に聞き取り調査を行ってきた。本書は、昭和20年から昭和25年に在学した卒業生8人に、戦後の五高生活について聞取りしたものである。また、戦後の第五高等学校に関する資料『習学寮報』、『私の「続習学寮史」補遺』から抜粋して収録した。departmental bulletin pape

    乳房外Paget病における遺伝子の腫瘍内不均一性およびクローン進化の解析

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    熊本大学博士(医学)thesi

    A welfare comparison of carbon pricing and strategic environmental corporate social responsibility in a monopoly market

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    departmental bulletin pape

    SARS-CoV-2 スパイクタンパク質の保存領域に対する一本鎖可変抗体フラグメントの開発

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    熊本大学博士(医学)doctoral thesi

    Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening

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    Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in the SLC25A13 gene. Intrahepatic cholestasis and various metabolic abnormalities, including hypoglycemia, galactosemia, citrullinemia, and hyperammonemia may be present in neonates or infants in the “neonatal intrahepatic cholestasis caused by citrin deficiency” (NICCD) form of the disease. Because at present, newborn screening (NBS) for citrin deficiency using citrulline levels in dried blood spots (DBS) can only detect some of the patients, we tried to develop a new evaluation system to more reliably detect newborns with citrin deficiency utilizing parameters already in place in present NBS methods. To achieve this goal, we re-analyzed NBS profiles of amino acids and acylcarnitines in 96 NICCD patients, who were diagnosed through selective screening or positive family history. Hereby, we identified the combined evaluation of arginine (Arg), citrulline (Cit), isoleucine+leucine (Ile + Leu), tyrosine (Tyr), free carnitine (C0) / glutarylcarnitine (C5-DC) ratio in DBS as potentially sensitive to diagnose citrin deficiency in pre-symptomatic newborns. In particular, a scoring system using threshold levels for Arg (≥9 μmol/L), Cit (≥ 39 μmol/L), Ile + Leu (≥ 99 μmol/L), Tyr (≥ 96 μmol/L) and C0/C5-DC ratio (≥327) was significantly effective to detect newborns who later developed NICCD, and could thus be implemented in existing NBS programs at no extra analytical costs whenever citrin deficiency is considered to become a novel target disease.journal articl

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