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Your browser version may not work well with NCBI's Web applications. More information here...The following terms were not found: medinfo2004_mtms, sld007.htm. See Details. |
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- An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system; an enzyme system with four components: P-, T-, H-, and L-proteins. Deficiency of the P-protein is the most prevalent form. Neonatal and juvenile presentations have been reported. Neonatal onset is more common and may be fatal. Clinical features include SEIZURES; hypotonia; APNEA; and COMA. When the illness presents in childhood there tends to be an associated progressive DEMENTIA accompanied by extrapyramidal signs. (Menkes, Textbook of Child Neurology, 5th ed, p46; Jpn J Hum Genet 1997 Mar;42(1):13-22)
Year introduced: 2000
- The process by which antigen is presented to lymphocytes in a form they can recognize. This is performed by antigen presenting cells (APCs). Some antigens require processing before they can be recognized. Antigen processing consists of ingestion and partial digestion of the antigen by the APC, followed by presentation of fragments on the cell surface. (From Rosen et al., Dictionary of Immunology, 1989)
Year introduced: 1994
- An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)
Year introduced: 2000(1991)
- Presentations of summary statements representing the majority agreement of physicians, scientists, and other professionals convening for the purpose of reaching a consensus--often with findings and recommendations--on a subject of interest. The Conference, consisting of participants representing the scientific and lay viewpoints, is a significant means of evaluating current medical thought and reflects the latest advances in research for the respective field being addressed.
Year introduced: 2008(1987)
- Presentations of nonstatistical data in tabular form.
Year introduced: 2008(1999)
- Works consisting of presentations of numerical data on particular subjects.
Year introduced: 2008(1999)
- Works consisting of single or multi-sheet notices made to attract attention to events, activities, causes, goods, or services. They are for posting, usually in a public place and are chiefly pictorial. They are intended to make an immediate impression from a distance. Posters do not include poster presentations at conferences and meetings. (From Thesaurus for Graphic Materials II: Genre and Physical Characteristic Headings, 1995)
Year introduced: 2008(1997)
- Works consisting of formal presentations made usually to fulfill requirements for an academic degree.
Year introduced: 2008(1997)
- For individual abstracts of presentations at meetings, congresses, conferences, symposia, colloquia, seminars, workshops, round tables, and other professional gatherings.
Year introduced: 2008(1991)
- Clinical presentations that may be followed by evaluative studies that eventually lead to a diagnosis.
Year introduced: 2008(1966)
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