Results 51 to 60 of about 5,176,506 (186)

Fluorinated Iminosugar Glycomimetics: Synthesis and Activity as GCase Ligands

European Journal of Organic Chemistry, EarlyView.
DAST‐mediated deoxyfluorination of suitably functionalized piperidines provided regio‐ and stereoselective access to fluorinated piperidine and pyrrolidine glycomimetics, the latter arising from an unusual ring‐contraction process. Fluorination generally enhanced β‐glucocerebrosidase (GCase) inhibitory potency, but lost PC activity toward L444P/L444P ...
Francesca Mangiavacchi, Alessio Morano, Cosimo Margheri, Cristina Faggi, Amelia Morrone, Camilla Matassini, Francesca Clemente, Andrea Goti, Martina Cacciarini, Francesca Cardona   +9 more
wiley   +1 more source

Avascular necrosis of the first metatarsal head in adolescence: A case report

La Pediatria Medica e Chirurgica, 2022
Avascular necrosis (AVN) of the first metatarsal (MTT) head is an uncommon condition and it occurs most often as a complication after capital osteotomy in correction of hallux valgus deformity.
Valentina Luppi, Marco Corradin, Roberto Schiavon, Silvia Pierantoni, Andrea Micaglio   +4 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Factors associated with severe postpartum hemorrhage in women with posterior low‐lying placenta and prior cesarean: A prospective population‐based study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Our objective was to conduct an exploratory assessment of the incidence and factors associated with severe postpartum hemorrhage (PPH) in women with posterior low‐lying placenta and prior cesarean without prenatal suspicion of placenta accreta spectrum (PAS). Methods The study population was derived from the PACCRETA population‐based
Anne Pinton, Catherine Deneux‐Tharaux, Aurélien Seco, Loïc Sentilhes, Gilles Kayem   +4 more
wiley   +1 more source

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

Clinical Experience With Eliglustat in Children With Gaucher Disease Type 1

American Journal of Medical Genetics Part A, EarlyView.
Erika R. Vucko, Allegra Quadri, Rachel E. Hickey, Carly A. Rasmussen, Monika Izdebski, Joel Charrow, Carlos E. Prada   +6 more
wiley   +1 more source

The Effect of LRRK2 and GBA1 Mutations on Survival in Early‐ and Late‐Onset Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Mutations in the glucocerebrosidase 1 (GBA1) and leucine‐rich repeat kinase 2 (LRRK2) genes are associated with Parkinson's disease (PD) phenotype. Objective To asses the contribution of genetic status to long‐term survival of patients with PD.
Raz Rubin, Roy N. Alcalay, Nurit Omer, Orly Goldstein, Mali Gana Weisz, Anat Mirelman, Avner Thaler   +6 more
wiley   +1 more source

Enzyme replacement therapy decreases hypergammaglobulinemia in Gaucher's disease

Haematologica, 1998
We report the effects of enzyme replacement therapy in a patient with Gaucher's disease associated with a monoclonal gammopathy. Alglucerase induces a linear decline in immunoglobulin and beta 2-microglobulin levels.
J Deibener, P Kaminsky, C Jacob, B Dousset, M Klein, M Duc   +5 more
doaj  

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source