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18 results

  1. ... with eyes that do not look in the same direction (strabismus). Other unusual facial features that can occur in this ... part of a spectrum of disorders with the same genetic cause. Other disorders on the spectrum include PPM-X syndrome, ...
  2. ... Scale is able to demonstrate convergent validity. In other words at the same point in time, maternal sensitivity appears to correlate ...
  3. ... of hyperammonemia is usually significantly less than in other urea cycle disorders such as OTC, ASS, or CPS-I deficiency (see Urea Cycle Disorders ). ( ... variability is observed among sibs who have the same SLC25A15 pathogenic variants [ Camacho ... variant in SLC25A15 . Other family members. Each sib of the proband 's ...
  4. ... hyperammonemia Later-onset of NAGS deficiency, CPSI deficiency, ASS deficiency ( citrullinemia type I ), and ASL deficiency (argininosuccinic aciduria) show the same clinical symptoms at presentation as milder OTC deficiency ( ...
  5. ... is not responsible for the information provided by other organizations. For information on selection criteria, click here . Incontinentia Pigmenti ASSociazione Italiana (I.P.ASS.I.) – Onlus Via Altair, 5 00012 Guidonia Montecelio ...
  6. ... first four enzymes in the pathway (CPS1, OTC, ASS, and ASL) or the cofactor producer (NAGS) results in the accumulation of blood ammonia concentration and other precursor metabolites during the first few days of ...
  7. ... study evaluated the accuracy of the combination of 42 and t-tau for distinguishing autopsy-confirmed AD (n=66) from a pooled group including both participants with non-AD dementia and other neurological diseases (n=39) (see Appendix Table D. ...
  8. ... of somnolence, confusion, falls, fractures, stroke, mortality, and other adverse outcomes. Given these potential harms, and the absence of evidence from eligible trials for benefits (not the same as definitive evidence that there is no benefit), ...
  9. ... for future research Full list of fields requested Other titles in this ... of modelling the time of imaging in Major Trauma - Major Trauma: Ass... Exploration of modelling the time of imaging in ...
  10. ... extent to which the items related to each other. Items were reevaluated for concept validity, and a final decision was made as to which items should be grouped together in the same subscale. Of these, items with an item-to- ...
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