Results 171 to 180 of about 203,537 (274)

Quantum Chemical Exploration of Fentanyl and Its Analogs: Conformational Landscapes and Energetics in Solution. [PDF]

open access: yesACS Omega
McKnight KA   +6 more
europepmc   +1 more source

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
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

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease

open access: yesJIMD Reports, Volume 67, Issue 3, May 2026.
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]

open access: yesJ Org Chem
Habanová N   +6 more
europepmc   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
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

open access: yesJournal of Physical Organic Chemistry, Volume 39, Issue 5, May 2026.
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

Surgical management of an open humeral fracture in a greater rhea (Rhea americana): Internal placement of a locking compression plate and post‐operative complications

open access: yesVeterinary Record Case Reports, Volume 14, Issue 2, May 2026.
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

Nest Predation in the Canarian Houbara Bustard (Chlamydotis undulata fuertaventurae): An Experimental Study Using Artificial Nests

open access: yesEcological Research, Volume 41, Issue 3, May 2026.
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

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