Results 11 to 20 of about 2,287,543 (147)

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

BMC Medical Genetics, 2020
Background Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. Case presentation In this
Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu   +7 more
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Sensitive screening of single nucleotide polymorphisms in cell free DNA for diagnosis of gestational tumours

npj Genomic Medicine, 2022
Tumours expressing human chorionic gonadotropin (hCG), the majority of which are difficult to biopsy due to their vascularity, have disparate prognoses depending on their origin.
Geoffrey J. Maher, Rosemary A. Fisher, Baljeet Kaur, Xianne Aguiar, Preetha Aravind, Natashia Cedeno, James Clark, Debbie Damon, Ehsan Ghorani, Adam Januszewski, Foteini Kalofonou, Ravindhi Murphy, Rajat Roy, Naveed Sarwar, Mark R. Openshaw, Michael J. Seckl   +15 more
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Detection of maple toxins in mare's milk

Journal of Veterinary Internal Medicine, 2021
Background Plants from the Sapindaceae family that are consumed by horses (maple) and humans (ackee and litchi) are known to contain the toxins hypoglycin A and methylenecyclopropylglycine which cause seasonally occurring myopathy in horses and entero ...
Johannes Sander, Michael Terhardt, Nils Janzen   +2 more
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Screening [PDF]

European Respiratory Journal, 2003
Screening for cancer is currently entering a very promising period as new technologies become available for assessment. However, this great opportunity also presents significant problems, starting with how do you select the likeliest method for evaluation?
openaire   +2 more sources

Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2018

International Journal of Neonatal Screening, 2019
Rigorous peer-review is the corner-stone of high-quality academic publishing[...]
International Journal of Neonatal Screening Editorial Office
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Sequential Screening [PDF]

The Review of Economic Studies, 1998
We present a model of price discrimination where a monopolistfaces a consumer who is privately informed about thedistribution of his valuation for an indivisible unit ofgood but has yet to learn privately the actual valuation.The monopolist sequentially screens the consumer with amenu of contracts:the consumer self-selects once by ...
Pascal Courty, Li Hao
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The adhesion and migration of microglia to β-amyloid (Aβ) is decreased with aging and inhibited by Nogo/NgR pathway

Journal of Neuroinflammation, 2018
Background Alzheimer’s disease is characterized by progressive accumulation of β-amyloid (Aβ)-containing amyloid plaques, and microglia play a critical role in internalization and degradation of Aβ. Our previous research confirmed that Nogo-66 binding to
Yinquan Fang, Jianing Wang, Lemeng Yao, Chenhui Li, Jing Wang, Yuan Liu, Xia Tao, Hao Sun, Hong Liao   +8 more
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Sulfasalazine modifies metabolic profiles and enhances cisplatin chemosensitivity on cholangiocarcinoma cells in in vitro and in vivo models

Cancer & Metabolism, 2021
Background Sulfasalazine (SSZ) is widely known as an xCT inhibitor suppressing CD44v9-expressed cancer stem-like cells (CSCs) being related to redox regulation. Cholangiocarcinoma (CCA) has a high recurrence rate and no effective chemotherapy.
Malinee Thanee, Sureerat Padthaisong, Manida Suksawat, Hasaya Dokduang, Jutarop Phetcharaburanin, Poramate Klanrit, Attapol Titapun, Nisana Namwat, Arporn Wangwiwatsin, Prakasit Sa-ngiamwibool, Narong Khuntikeo, Hideyuki Saya, Watcharin Loilome   +12 more
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Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

BMC Pediatrics, 2020
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation.
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu   +6 more
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Rhamnan sulphate from green algae Monostroma nitidum improves constipation with gut microbiome alteration in double-blind placebo-controlled trial

Scientific Reports, 2021
Rhamnan sulphate (RS), a sulphated polysaccharide from Monostroma nitidum, possesses several biological properties that help in treating diseases such as viral infection, thrombosis, and obesity.
Yasuhito Shimada, Masahiro Terasawa, Fumiyoshi Okazaki, Hiroko Nakayama, Liqing Zang, Kaoru Nishiura, Koichi Matsuda, Norihiro Nishimura   +7 more
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