Results 31 to 40 of about 12,191 (186)

A Solid‐Phase Approach to Chiral C2‐Substituted Cyclen and DOTA‐Like Lanthanoid Ligands

Chemistry – A European Journal, EarlyView.
Chiral C2‐substituted cyclen derivatives have been designed and synthesized from chiral cyclic peptoids. Their conversion into the corresponding DOTA‐type ligands opens new avenues for the development of high‐relaxivity MRI contrast agents. ABSTRACT Magnetic resonance imaging (MRI) is a powerful diagnostic modality that relies on Gd+3‐based contrast ...
Rosaria Schettini, Roberta Napolitano, Alberto Fringuello Mingo, Federica Buonsanti, Giovanni Pierri, Consiglia Tedesco, Chiara Costabile, Giorgio Della Sala, Irene Izzo, Francesco De Riccardis   +9 more
wiley   +1 more source

Osteoarticular pathology in Gaucher disease, complicated by tuberculosis (clinical observations)

Гений oртопедии, 2022
Introduction Gaucher disease belongs to the group of hereditary lysosomal orphan cumulative diseases caused by deficiency of the β-glucocerebrosidase enzyme. It features polysystemic affection, including bone tissue. The osteoarticular system in Gaucher
Lyudmila A. Semenova, Vladimir A. Khomenko, Kira A. Lukina   +2 more
doaj   +1 more source

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

Gaucher disease and pregnancy

Journal of Obstetrics and Gynaecology, 2009
Gaucher disease (GD) is a lysosomal storage disorder (LSD) caused by deficiency of lysosomal β-glucocerebrosidase and subsequent accumulation of glucosylceramide (GlcCer) in cells of the reticuloen...
A M, Mamopoulos, D A, Hughes, S M, Tuck, A B, Mehta   +3 more
openaire   +2 more sources

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

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

Neurobiology of Disease, 2005
Gaucher disease is an inherited metabolic disorder caused by defective activity of the lysosomal enzyme, glucocerebrosidase, resulting in accumulation of the lipids, glucosylceramide (GlcCer), and glucosylsphingosine (GlcSph).
Dori Pelled, Selena Trajkovic-Bodennec, Emyr Lloyd-Evans, Ellen Sidransky, Raphael Schiffmann, Anthony H. Futerman   +5 more
doaj   +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

Gaucher Disease pada Bayi: Kasus Jarang

Majalah Kedokteran Andalas, 2023
Pendahuluan: Gaucher disease (GD) adalah penyakit genetik yang ditandai dengan akumulasi substansi lemak di dalam sel atau organ-organ tertentu. Penyakit ini disebabkan oleh mutasi gen glucosidase beta acid (GBA) yang mengakibatkan defisiensi enzim ...
Rikarni Rikarni, Harika Putra
doaj   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

Orphanet Journal of Rare Diseases
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases.
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar   +12 more
doaj   +1 more source