نتایج جستجو برای: nyhan syndrome
تعداد نتایج: 622040 فیلتر نتایج به سال:
Lesch-Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit over-production of uric acid, along with a characteristic neurobehavioural syndrome that includes mental retardation, recurrent self-injurious behaviour and motor disability. Prior studies involving relatively small numbers of patient...
PĹedklĂĄdanĂŠ kazuistiky seznamujĂ s moĹžnostmi vyuĹžitĂ pomĹŻcek alternativnĂ a augmentativnĂ komunikace u dÄtĂ kombinovanĂ˝m postiĹženĂm symptomatickou poruchou ĹeÄi. PĹedstavĂme porovnĂĄme nĂĄhradnĂ zpĹŻsoby dvou chlapcĹŻ vĂ˝vojovou anartriĂ. PrvnĂ pĹĂpadovĂĄ studie se vÄnuje dĂtÄti syndromem Lesch-Nyhan, druhĂĄ chlapci centrĂĄlnĂho nervovĂŠho systĂŠmu. NaĹĄĂm cĂlem je...
Background: International research has shown that language delay (LD) is associated with social, cognitive, emotional and/or behavioural deficiencies, but there is still a need for extended knowledge about LD at early age and its relationship with long-term language impairment and neuropsychiatric disorders in Swedish children.
Cytosine methylation has been found to play a crucial role in various biological processes, including a number of human diseases. The detection of this small modification remains challenging. In this work, we computationally explore the possibility of detecting methylated DNA strands through direct electrical conductance measurements. Using density functional theory and the Landauer-Büttiker me...
Background. Many individuals who work in the military experience sleep deficiency which presents a significant problem given the nature of their work. The cause of their sleep problems is likely multifactorial, stemming from the interplay between their personal health, habits and lifestyle juxtaposed with the stress of their military work such as emotional and physical trauma experienced in ser...
A case of genital self mutilation in schizophrenia is described and its psychopathology discussed.
The aim of this study is to extract indicators that are associated with the heat/nonheat and excess/deficiency patterns in stroke pattern identification through the large-scale analysis of clinical data. Two experts, who had more than three years of clinical experience with stroke, independently performed the pattern identification. We analyzed indicators of clinical data with two doctors' conc...
An investigation of the mechanism of the polAex1 mutation in vitro suggested that the excision repair deficiency observed in vivo does not result from an inability of the enzyme to nick translate. The defect appears to reside in the inability of the enzyme to effectively generate a nick structure to serve as a substrate for DNA ligase.
Glucose-6-phosphate dehydrogenase deficiency serves as a prototype of the many human enzyme deficiencies that are now known. Since its discovery more than 50 years ago, the high prevalence of the defect and the easy accessibility of the cells that manifest it have made it a favorite tool of biochemists, epidemiologists, geneticists, and molecular biologists as well as clinicians. In this brief ...
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