نتایج جستجو برای: biotinidase deficiency
تعداد نتایج: 137210 فیلتر نتایج به سال:
Although a portion of risk for late-onset AD (LOAD) is attributable to APOE, the search for other loci is ongoing. The authors hypothesize that psychotic symptoms with LOAD (LOAD+P) identify a potentially more etiologically homogeneous form of AD. Linkage analysis of families with LOAD+P identified one significant and several suggestive novel linkage signals, which bolsters the conjecture of gr...
BACKGROUND Timely referral to specialist kidney care can improve outcomes for patients and delay the onset of dialysis, yet late referral (LR) remains a problem in many countries. We aimed to estimate the proportion of LRs that could potentially have been detected earlier because of increases in patients' general hospital activity. METHODS A cohort of patients starting dialysis in the English...
There is a lack of stability in language difficulties across early childhood: most late talkers (LTs) resolve their difficulties by pre-school; and a significant number of children who were not LTs subsequently manifest language difficulties. Greater reliability in predicting individual outcomes is needed, which might be achieved by waiting until later in development when language is more stabl...
OBJECTIVE To investigate the patterns of myocardial involvement in the presence of self-limiting and sustained systemic inflammation, using MRI. METHODS Ninety-four subjects, with a clinical diagnosis of myocarditis (n = 36), RA (n = 24) and apparently healthy subjects (n = 34, control group), underwent standardized cardiac MRI protocol for the assessment of global and regional morphology and...
Background In patients with myocardial infarction (MI), an important factor in determining the long-term prognosis is the degree of regional contractile dysfunction. DENSE (Displacement ENcoding with Stimulated Echoes) is a technique which allows quantification of myocardial strain[1], and which has been shown to be more sensitive to the presence of late gadolinium enhancement (LGE) than wall t...
The Notch receptor mediates a short-range signal that regulates many cell fate decisions. The misregulation of Notch has been linked to cancer and to developmental disorders. Upon binding to its ligands, Delta (Dl) or Serrate (Ser), the Notch ectodomain is shed by the action of an ADAM protease. The Notch intracellular domain is subsequently released proteolytically from the membrane by Preseni...
Distractibility was investigated in three age groups of children (8-9, 10-11, and 12-13 years) with event-related brain potentials (ERPs) and performance measures in a forced-choice visual task. Distraction was reflected by increased reaction times (RTs) and decreased performance accuracy in the visual discrimination task following presentation of unexpected novel sounds. The amplitude of the l...
BACKGROUND Few studies have monitored late presentation (LP) of HIV infection over the European continent, including Eastern Europe. Study objectives were to explore the impact of LP on AIDS and mortality. METHODS AND FINDINGS LP was defined in Collaboration of Observational HIV Epidemiological Research Europe (COHERE) as HIV diagnosis with a CD4 count <350/mm(3) or an AIDS diagnosis within 6...
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