Results 101 to 110 of about 16,645,960 (212)

The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease

Cells
Background: Gaucher disease (GD) is caused by glucocerebrosidase (GCase) enzyme deficiency, leading to glycosylceramide (Gb-1) and glucosylsphingosine (Lyso-Gb-1) accumulation.
Margarita M. Ivanova, Julia Dao, Neala Loynab, Sohailla Noor, Neil Kasaci, Andrew Friedman, Ozlem Goker-Alpan   +6 more
doaj   +1 more source

π‐Extended Silyl Enolates as Emerging Platforms in Radical Chemistry

European Journal of Organic Chemistry, Volume 29, Issue 36, 24 September 2026.
This review covers the emerging role of π‐extended silyl polyenol ethers in radical chemistry. It highlights their versatile roles as electron‐rich SOMOphiles, silyl radical cation precursors, and nucleophilic partners in radical–polar crossover manifolds, while considering recent advances in photoredox catalysis, electrochemistry, and transition metal‐
Debora Guazzetti, Kelly Bugatti, Claudio Curti, Franca Zanardi   +3 more
wiley   +1 more source

Bone Marrow Replaced with Gaucher Cells

, 2002
bone marrow replaced with Gaucher cells ...
Lawrence, Christine
core  

Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde, Jessem Landoulsi, Xavier Houard   +2 more
wiley   +1 more source

Functional retinal changes in Gaucher disease.

, 2009
In Gaucher disease, sphingolipid glucosylceramide is accumulated in cells of the reticulo-endothelial system. This leads to the formation of "Gaucher cells," which are enlarged macrophages. In the eye, circumscript preretinal deposits are a pathognomonic
Seidova, SF;Kotliar, K;Foerger, F;Klopfer, M;Lanzl, I
core   +1 more source

Gaucher Cells with Fibrillar Appearing Cytoplasm

, 2002
two Gaucher cells with fibrillar appearing ...
Lawrence, Christine
core  

Lithostratigraphy

, 2009
The Rio de la Plata Craton is one of the main Precambrian Cratons of the South American Continent (3.6 Ga and 1.8 Ga), as part of the Rodinia Supercontinent.
Claudio Gaucher, Gaucher, Claudio, Poire, Daniel Gustavo, Daniel G. Poiré   +3 more
core   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

A case with Gaucher-like cells

, 2001
Gaucher-like cells (GLC) are sometimes indistinguishable from real Gaucher cells. GLC can be detected in various diseases. We present a 4.5 year old boy with massive cervical lympadenopathy and an intraabdominal mass mimicking lymphoma.
Celkan, Tiraje, Özkan, Alp, Yüksel, Lebriz, Camcioǧlu, Yildiz, Ercan, Gökmen, APAK, Hilmi, Diren, Suküfe, Erener, Tuǧba, Yildiz, Inci   +8 more
core  

Parkinsonism among Gaucher disease carriers

, 2004
This article is free to read on the publishers website\ud \ud An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of ...
Schiffmann, R., Goker-Alpan, O., Nussbaum, R.L., Nussbaum, R. L., LaMarca, M.E., LaMarca, M. E., McInerney-Leo, A., Sidransky, E.   +7 more
core   +1 more source