Results 51 to 60 of about 7,801 (251)
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
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.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
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
Mutational spectrum of cystinosis in Portugal, 1998-2017 [PDF]
, 2019 Artigo original publicado em inglês: Ferreira F, Leal I, Sousa D, et al. CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population. Open J Genet. 2018 Dec 18;8(4):91-100.
Carmona, Célia +16 more
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Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act [PDF]
, 2015 Background: Lysosomal storage disorders are a heterogeneous group of approximately 50 monogenically inherited orphan conditions. A defect leads to the storage of complex molecules in the lysosome, and patients develop a complex multisystemic phenotype of
Hoffmann, Georg Friedrich +3 more
core +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: Transporters
British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +28 more
wiley +1 more source
Egyptian Pediatric Association GazetteBackground Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy +4 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Background While thyroid dysfunction develops in about 50% of untreated children with cystinosis, there is no data about how the sonography of thyroid tissue appears in this disease.
Derya Bako +4 more
doaj +1 more source
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]
, 2019 BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina +8 more
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