نتایج جستجو برای: nyhan syndrome

تعداد نتایج: 622040  

Journal: :Japanese Journal of Oral & Maxillofacial Surgery 1989

Journal: :Indian Journal of Dermatology 2015

Journal: :Proceedings of the National Academy of Sciences 1981

Journal: :Proceedings of the Royal Society of Medicine 1968

Journal: :Science 1974
S Rockson R Stone M Van der Weyden W N Kelley

Subjects with the Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency with self-mutilation) exhibit an apparently unique pattern of adrenergic dysfunction characterized by elevated plasma dopamine beta-hydroxylase activity and an absence of pressor response to acute sympathetic stimulation. Patients with a partial deficiency of hypoxanthine-guanine phosphoribosyltran...

2016
Satyakam Mohapatra Alok Jyoti Sahoo

Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase-1. Few reports on behavioral aspects especially self-injurious behavior in LNS patients are available. We report a case of LNS in an 8-year-old male child, who presented with characteristic self-injurious behavior.

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