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深海クラゲの世界を見る (日経サイエンス)

海の大部分の体積を占めるのは,表層と海底の間に存在する暗黒の冷たい海水域で,そこで繁栄しているのがクラゲだ。クラゲはゼラチン質の脆弱な体。網で捕まえるよりも,カ...

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  4. ノーベル化学賞逃した日本人研究者、東大と...

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[Gaucher's disease: current aspects].

著者 Klein M , Kaminsky P , Duc M
Rev Med Interne.1995 ; 16(6):447-56.
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Service de médecine J, CHU de Nancy, hôpitaux de Brabois, Vandoeuvre-lès-Nancy, France.

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Gaucher's disease is an autosomal recessive inherited disorder, characterized by genetic deficiency of lysosomial glucocerebrosidase. Its substrate (glycosylceramide) subsequently accumulates in cells of monocyte/macrophage origin, resulting in enlargement of the spleen and liver, skeletal lesions, and, in the most severe phenotypes, in neurological disorders. Thirty-six mutations have been at present documented in the gene encoding for the glucocerebrosidase, but four of them (N370S, L444P, 84GG and IVS2+1) are really frequent, particularly in ashkenaze population. Gaucher's disease is diagnosed by the presence of Gaucher cells, especially in bone marrow aspirate, and by assessing the glucocerebrosidase activity. The prognosis has been considerably improved by enzyme replacement therapy.
PMID: 7652229 [PubMed - indexed for MEDLINE]
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