J Cancer Res Ther 2017 Oct-Dec;13(6):1073-1074
Department of Pediatric Oncology and Pediatric Bone Marrow Transplantation Unit, Faculty of Medicine, Cukurova University, Adana, Turkey.
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J Pediatr Endocrinol Metab 2012 ;25(3-4):349-52
Division of Pediatric Immunology, Department of Pediatrics, Medical Faculty, Research Hospital, Erciyes University, Kayseri, Turkey.
Ataxia telangiectasia is a rare genetic disease characterized by neurological manifestations, infections, and cancers. In addition to these cardinal features, different autoimmune diseases can be seen in patients with ataxia telangiectasia. Although there were reports of positive autoimmune thyroid antibodies associated with ataxia telangiectasia, to our knowledge, we report the first cases of nodular Hashimoto thyroiditis in two patients with ataxia telangiectasia in the English medical literature. Read More
Biochem J 1980 Jun;188(3):677-82
An enzyme that enhances the activity of DNA polymerase I (EC 2.7.7. Read More
Neurosci Lett 2016 Jan 25;611:112-5. Epub 2015 Nov 25.
Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China. Electronic address:
Ataxia telangiectasia is an autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia with onset in childhood, oculocutaneous telangiectasia, increased serum alpha-fetoprotein, immunodeficiency, chromosomal instability, and radiation hypersensitivity. Ataxia-telangiectasia mutated gene (ATM) is one of the known genes to be associated with ataxia telangiectasia. We reported the clinical and genetic findings of three early-onset Chinese patients who demonstrated ataxia, oculomotor apraxia, choreoathetosis, myoclonus and telangiectasia of eyes. Read More
World J Surg Oncol 2009 Mar 12;7:29. Epub 2009 Mar 12.
Department of Pediatric Surgery, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH 43205, USA.
Background: Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis.
Case Presentation: We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction. Read More