Results 171 to 180 of about 203,537 (274)
Quantum Chemical Exploration of Fentanyl and Its Analogs: Conformational Landscapes and Energetics in Solution. [PDF]
McKnight KA +6 more
europepmc +1 more source
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein +20 more
wiley +1 more source
L’ostéoradionécrose due à des radiothérapies répétées du sein. [PDF]
Lum N, Kwan JYY.
europepmc +1 more source
Genetic prevalence study of glycogen storage disease type IV. In collaboration with the Rare Genomes Project at the Broad Institute of MIT and Harvard and the APBD Research Foundation, this study queried and curated variants in GBE1 from ClinVar, HGMD, and gnomAD to calculate the genetic prevalence of glycogen storage disease type IV (GSD IV).
Rebecca L. Koch +13 more
wiley +1 more source
Redundant <sup>15</sup>N-Mediated <i>J</i>-Couplings Reveal an Aglycone Conformation in <i>N</i>-Phenyl Glycosylamines. [PDF]
Habanová N +6 more
europepmc +1 more source
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Triplet 4‐Nitrenemethyl‐Pyridine‐N‐Oxide: A Model Alkyl Nitrene Isolated in Cryogenic Matrices
The simplest triplet alkyl nitrene bearing a pyridine‐N‐oxide moiety was generated by direct irradiation (λ > 350 nm) of the corresponding azide in an Ar matrix at 15 K. Quantum tunneling 1,2‐H shift to the corresponding imine is thermodynamically favorable but does not occur due to a high‐energy barrier (~36 kcal mol−1).
Cláudio M. Nunes +5 more
wiley +1 more source
Thyroïdite de Riedel évoquant une tumeur maligne localement invasive chez un homme de 55 ans. [PDF]
Salinovic D +3 more
europepmc +1 more source
SUMMARY A 17‐year‐old, 24‐kg, female greater rhea (Rhea americana) presented with an acute onset of left wing droop. Clinical examination and radiographs revealed an open, simple, displaced, short‐oblique diaphyseal fracture of the distal third of the left humerus.
Pierre Huberdeau +6 more
wiley +1 more source
We investigated nest predation in the endangered Canarian houbara bustard using 229 artificial nests and camera traps. Ravens were identified as the main predators, and predation rates were influenced by raven density, vegetation cover, stone cover, and road density.
Alberto Ucero +2 more
wiley +1 more source

