Results 111 to 120 of about 48,814 (291)
Universitas ScientiarumMucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez +2 more
doaj +1 more source
Large Language Model‐Based Chatbots in Higher Education
Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.The use of large language models (LLMs) in higher education can facilitate personalized learning experiences, advance asynchronized learning, and support instructors, students, and researchers across diverse fields. The development of regulations and guidelines that address ethical and legal issues is essential to ensure safe and responsible adaptation
Defne Yigci +4 more
wiley +1 more source
Journal of Lipid ResearchThe gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero +9 more
doaj +1 more source
Combined immunodeficiency and inborn errors of purine metabolism [PDF]
, 1978 H.J. Meuwissen, Bernard Pollara
openalex +1 more source
Temperature and the evolution of flower color: A review
American Journal of Botany, EarlyView.Abstract Flower colors brighten our natural world. How and why have they evolved? How might ongoing global warming alter their evolutionary trajectories? In this review, I examine the influence of ambient temperature on the evolution of flower color.
Elizabeth P. Lacey
wiley +1 more source
C1r deficiency: an inborn error associated with cutaneous and renal disease [PDF]
, 1972 N K Day +6 more
openalex +1 more source
Pure Red Cell Aplasia Associated With Thymic Tumors, a Nationwide Retrospective Study
American Journal of Hematology, EarlyView.ABSTRACT Pure red cell aplasia (PRCA) is the most frequent autoimmune cytopenia associated with thymic tumors (TTs). In a nationwide retrospective study, we included 41 patients (22 women, median age 62 years). At PRCA diagnosis, the mean hemoglobin level was 6.6 ± 2.1 g/dL, and the reticulocyte count was 6 ± 5 × 109/L. PRCA was diagnosed before TT (8%,
Mylène Hemmer +9 more
wiley +1 more source
Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. [PDF]
, 1974 N. J. Brandt +3 more
openalex +1 more source
American Journal of Hematology, EarlyView.ABSTRACT D‐dimer defines degradation products derived from the proteolysis mediated by plasmin on cross‐linked fibrin. The evidence‐based use of D‐dimer in some conditions has been consolidated. Currently, however, there is an entrenched prescription of D‐dimer testing to screen otherwise healthy subjects that may induce prescribing physicians to start
Armando Tripodi +11 more
wiley +1 more source
Genetical theory and the "inborn errors of metabolism". [PDF]
, 1970 H. Harris
openalex +1 more source