Results 41 to 50 of about 7,764 (252)
Central Nervous System Complications in Cystinosis: The Role of Neuroimaging
Cells, 2022 Despite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severities are still observed in cystinosis patients.
Aude Servais +4 more
doaj +1 more source
Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. [PDF]
, 2019 Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular interaction between numerous cell types including macrophages.
Cherqui, Stephanie +4 more
core +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, EarlyView.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis. [PDF]
Turk J OphthalmolÜzüm S +4 more
europepmc +3 more sources
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. [PDF]
, 2019 Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β ...
Antignac, Corinne +16 more
core
Pediatrics, 1960 Three cases of cystine storage disease occuring in one family are presented. In all three patients the diagnosis of cystine storage was established in vivo with the demonstration of cystine crystals in aspirated specimens of bone marrow and confirmed by paper chromatography of the urine in the two deceased siblings.
openaire +1 more source
Advanced Materials, Volume 37, Issue 49, December 10, 2025.A schematic illustration of how noble metals can be used to create nanoparticles (NPs) or nanoclusters (NCs). Noble metal NPs, due to their plasmonic properties, enable photothermal therapy and surface‐enhanced Raman scattering (SERS). In contrast, NCs, which lack a plasmonic resonance band, exhibit fluorescence, making them ideal for bioimaging ...
David Esporrín‐Ubieto +3 more
wiley +1 more source
Nefrología (English Edition), 2015 Introduction: Cystinosis is a rare systemic lysosomal storage disease that mainly affects the kidney and the eye. Renal replacement therapy is started in patients with cystinosis during the first decade of life in the absence of treatment.
Gema Ariceta +15 more
doaj +1 more source
Transplantation in children [PDF]
, 1976 Kidney transplantation in very young children, less than 2 years of age, has usually failed, mainly because of difficulties maintaining these patients on hemodialysis long enough to permit retransplantation after loss of the original graft.
Charles W. Putnam +15 more
core +1 more source
In Vitro and In Vivo Models to Study Nephropathic Cystinosis
Cells, 2021 The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysiology of nephropathic cystinosis. Primary cultures from patient biopsies have been instrumental in determining the
Pang Yuk Cheung +3 more
doaj +1 more source