نتایج جستجو برای: biotinidase deficiency

تعداد نتایج: 137210  

Journal: :Neurology 2002
S A Bacanu B Devlin K V Chowdari S T DeKosky V L Nimgaonkar R A Sweet

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...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2015
Ian Blunt Martin Bardsley Giovanni F M Strippoli

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...

2015
Fiona J. Duff Kate Nation Kim Plunkett DVM Bishop Claire Fletcher-Flinn

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...

2010
Valentina O. Puntmann Peter C. Taylor Andrew Barr Bernhard Schnackenburg Cosima Jahnke Ingo Paetsch

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...

2014
Christie McComb David Carrick Rosemary Woodward John D McClure Aleksandra Radjenovic Colin Berry John Foster

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...

Journal: :Current Biology 2004
Marian B. Wilkin Ann-Marie Carbery Maggy Fostier Hanna Aslam Sabine L. Mazaleyrat Jenny Higgs Anna Myat Dana A.P. Evans Michael Cornell Martin Baron

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...

Journal: :JPMA. The Journal of the Pakistan Medical Association 2012
Bushra Afroze Mohammad Wasay

Journal: :Psychophysiology 2004
Valentina Gumenyuk Oleg Korzyukov Kimmo Alho Carles Escera Risto Näätänen

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...

2013
Amanda Mocroft Jens D. Lundgren Miriam Lewis Sabin Antonella d'Arminio Monforte Norbert Brockmeyer Jordi Casabona Antonella Castagna Dominique Costagliola Francois Dabis Stéphane De Wit Gerd Fätkenheuer Hansjakob Furrer Anne M. Johnson Marios K. Lazanas Catherine Leport Santiago Moreno Niels Obel Frank A. Post Joanne Reekie Peter Reiss Caroline Sabin Adriane Skaletz-Rorowski Ignacio Suarez-Lozano Carlo Torti Josiane Warszawski Robert Zangerle Céline Fabre-Colin Jesper Kjaer Genevieve Chene Jesper Grarup Ole Kirk

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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