Results 51 to 60 of about 6,138 (207)
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
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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Prenatal diagnosis of cystinosis [PDF]
, 1975 Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 55Sl-cystine retention was measured.
Blazer, Bonnie +3 more
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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
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
Case Reports in Nephrology, Volume 2026, Issue 1, 2026.This case report delves into the complex presentation of Fanconi syndrome (FS) associated with tenofovir disoproxil fumarate (TDF) use in a 27‐year‐old male diagnosed with HIV. The patient exhibited severe proximal tubulopathy and osteomalacia, emphasizing the need for vigilant monitoring in individuals on TDF‐based regimens.
Lavender Otom +4 more
wiley +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
FK506 IN PEDIATRIC KIDNEY-TRANSPLANTATION - PRIMARY AND RESCUE EXPERIENCE [PDF]
, 1995 Between December 14, 1989, and December 17, 1993,43 patients undergoing kidney transplantation alone at the Children’s Hospital of Pittsburgh received FK506 as the primary immunosuppressive agent. The mean recipient age was 10.2 ± 4.8 years (range 0.7–17.
ELLIS, D +13 more
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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
Nephropathic Cystinosis : First reported case in Oman
Sultan Qaboos University Medical Journal, 2011 Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations.
Dana Al-Nabhani +5 more
doaj