نتایج جستجو برای: nyhan syndrome

تعداد نتایج: 622040  

Journal: :Stroke 2008
Peter H Proctor

Uric Acid: Neuroprotective or Neurotoxic? To the Editor: A decades-old scientific dispute pits “as a pro-oxidant, uric acid causes disease”1–3 against “uric acid is an important antioxidant.”2–6 The antioxidant properties of urate are long-known.6 However, arguably, this issue per se originated in our complimentary reports of urate as both a primate evolutionary substitute for ascorbate4 (a put...

پایان نامه :دانشگاه آزاد اسلامی واحد علوم پزشکی تهران - دانشکده پزشکی 1390

مقدمه : impingement syndrome یکی از بیماریهای شایع است که با درد شانه ومحدودیت حرکت در مفصل شانه همراه می باشد. با توجه به اهمیت این موضوع و لزوم دستیابی به روشی مطمئن جهت درمان مبتلایان به این بیماری، در این مطالعه به بررسی میزان اثربخشی استفاده از glyceril trinitrate بصورت موضعی در درمان مبتلایان بهimpingement syndrome پرداختیم. مواد و روشها: در این مطالعه که از نوع مداخله ای-تحلیلی میباشد60...

Journal: :Environmental Health Perspectives 2000
W L Nyhan

Lesch-Nyhan disease is a disorder of purine metabolism resulting from mutations in the gene for hypoxanthine guanine phosphoribosyl transferase on the X chromosome. It is characterized by hyperuricemia and all of its consequences, as in gout; but in addition, patients have impressive disease of the central nervous system. This includes spasticity, involuntary movements, and retardation of motor...

Journal: :Journal of autism and developmental disorders 1994
L T Anderson M Ernst

UNLABELLED Parents of 40 patients with Lesch-Nyhan disease completed a questionnaire detailing developmental history, life course, management, medication, factors influencing variability and topography of self-injury. Several conclusions were reached. Characteristics: Biting was the predominant form, perhaps only because of the difficulty of preventing it. There was considerable variability in ...

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