731-22-6

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Epistasis between intracellular cholesterol trafficking-related genes (NPC1 and ABCA1) and Alzheimer's disease risk.

Eloy Rodríguez-Rodríguez et al.

Journal of Alzheimer's disease : JAD, 21(2), 619-625 (2010-06-24)

Aberrant cholesterol metabolism has been implicated in Alzheimer's disease (AD). Recent findings have suggested an interaction of Niemann-Pick C1 (NPC1) and ATP-binding cassette transporter A1 (ABCA1) proteins in intracellular cholesterol transport and in maintaining cell cholesterol balance. Underexpression of NPC1

Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy.

F Martinez di Montemuros et al.

Blood cells, molecules & diseases, 27(6), 961-970 (2002-02-08)

Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway. So far, more than 170 different mutations responsible for AIP have been

D-dimer and prothrombin fragment 1 + 2 predict venous thromboembolism in patients with cancer: results from the Vienna Cancer and Thrombosis Study.

Cihan Ay et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 27(25), 4124-4129 (2009-07-29)

Venous thromboembolism (VTE) is a well-recognized complication of cancer. Laboratory parameters might be useful to assess the VTE risk in patients with cancer. The aim of this study was to investigate D-dimer and prothrombin fragment 1 + 2 (F 1

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