Results 51 to 60 of about 5,039 (197)
Cystinosis : a new perspective
, 2016 Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. It is the most frequent and potentially treatable cause of the inherited renal Fanconi syndrome. If left untreated, renal function rapidly deteriorates towards end-stage renal
Casteels, Ingele +9 more
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Potential use of stem cells as a therapy for cystinosis [PDF]
, 2018 Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders (LSDs). Initial symptoms of cystinosis correspond to the renal Fanconi syndrome. Patients then develop chronic kidney disease and multi-organ
Celine J. Rocca +4 more
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Cystinuria and cystinosis are usually related to L-cystine: is this reallythe case for cystinosis? A physicochemical investigation at micrometreand nanometre scale [PDF]
, 2021 International audienceMedical literature indicates clearly that cystinuria and cystinosis, two severe genetic pathologies, are related to the presence of abnormal L-cystine deposits.
Margaux Petay +33 more
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, 2009 Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause
Neves, R, Castro, I
core
Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis
Journal of Translational MedicineBackground Cystinosis is a rare, incurable lysosomal storage disease caused by mutations in the CTNS gene encoding the cystine transporter cystinosin, which leads to lysosomal cystine accumulation in all cells of the body.
Sante Princiero Berlingerio +14 more
doaj +1 more source
Chemistry–Methods, Volume 6, Issue 10, October 2026.Carbon nitride microtubes (C3N4‐MTs) have been functionalized with a Ru(bda) coordination oligomer via supramolecular CH–π interactions. The C3N4‐MTs exhibit enhanced visible‐light activity, improved charge separation, and superior performance in cysteamine sensing and water oxidation, highlighting a versatile route toward molecularly engineered ...
Júlia Prat +5 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
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
The HEAT Repeat Protein MROH1 Deficiency Leads to Reduced Circulating Thyroid Hormone Levels in Mice
Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.Global Mroh1 deficiency in male mice is associated with reduced circulating thyroid hormone level, late‐onset thyroid follicular remodelling, and lower whole‐thyroid abundance of Nkx2‐1, Foxe1, and Tg transcripts. These findings support a role for MROH1 in maintaining thyroid homeostasis and structural integrity.
Nami Ohuchi +12 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