Results 61 to 70 of about 2,195 (134)

Repercussions of Diagnostic Delay in Rare Diseases

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista, Luiza Fernandes Valente, Fernando Spina, Davi Said Gonçalves Celso, Israel Gomy, Christiane Mariotini‐Moura   +5 more
wiley   +1 more source

God's Presence in the Aisle: How God Salience Encourages Preference for Ultra‐Processed Foods

Psychology &Marketing, Volume 43, Issue 8, Page 1859-1877, August 2026.
ABSTRACT God‐related cues are pervasive in consumers' daily lives, yet little research has examined how God salience shapes consumer food choices. Drawing on compensatory control theory and the literature on symbolic healing, we present findings from six studies, including a field experiment, demonstrating that high (vs.
Ali Gohary, Hean Tat Keh
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

N-2 Alkylated analogues of aza-galactofagomine as potential inhibitors of β-glucosidase [PDF]

Journal of the Serbian Chemical Society
The synthesis of four N-2-alkylated aza-galactofagomine (AGF) analogues was achieved by intermolecular reductive hydrazination or alkylation of suitably protected AGF. The synthesized compounds were evaluated as potential β-glucosidase inhibitors.
Đurković Filip, Zlatović Mario, Sladić Dušan, Novaković Irena, Bihelović Filip, Ferjančić Zorana   +5 more
doaj   +1 more source

in silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher’s disease using multiple software tools.

Frontiers in Genetics, 2014
Gaucher’s disease is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalysis the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose.
Madhumathi eManickam, Palaniyandi eRavanan, Pratibha eSingh, Deepesh eTourani, Priti eTalwar   +4 more
doaj   +1 more source

Extensive cardiovascular involvement in a young boy with Gaucher's disease: a case report. [PDF]

Eur Heart J Case Rep, 2023
Naderian M, Khederlou H, Hosseinsabet A, Salarifar M.   +3 more
europepmc   +1 more source

Gaucher's Disease in an Adult Female: A Rare Entity. [PDF]

Cureus, 2021
Kannauje PK, Pandit V, Wasnik PN, Gupta AK, Venkatesan N.   +4 more
europepmc   +1 more source

Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease. [PDF]

J Blood Med, 2021
Giraldo P, Andrade-Campos M.
europepmc   +1 more source

Cardiopulmonary assessment of patients diagnosed with Gaucher's disease type I. [PDF]

Mol Genet Genomic Med, 2021
Bjelobrk M, Lakocevic M, Damjanovic S, Petakov M, Petrovic M, Bosnic Z, Arena R, Popovic D.   +7 more
europepmc   +1 more source

Rare Case of Gaucher's Disease Presenting as a Solitary Swelling of the Proximal Tibia Mimicking a Musculoskeletal Tumor in an Adult: A Case Report. [PDF]

J Orthop Case Rep, 2022
Rahman SH, Srinivasan S, Rai AK, Kumar KGG, Sadar AS, Srivastava SS.   +5 more
europepmc   +1 more source