Results 61 to 70 of about 48,474 (154)
Clinical and Translational Science, Volume 18, Issue 4, April 2025.ABSTRACT Clinical pharmacologists face unique challenges when developing drugs for rare diseases. These conditions are characterized by small patient populations, diverse disease progression patterns, and a limited understanding of underlying pathophysiology.
Mariam A. Ahmed +9 more
wiley +1 more source
First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
The Scientific World Journal, Volume 2015, Issue 1, 2015., 2015 Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal‐membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However,
Yong-jia Yang +11 more
wiley +1 more source
The Evolving Experience and Outcomes of Pediatric Kidney Transplant in Abu Dhabi, UAE (2010–2024)
International Journal of Nephrology, Volume 2025, Issue 1, 2025.Background Kidney transplant is acknowledged as the treatment of choice for end‐stage renal disease (ESRD). This study reports on the outcome of pediatric renal transplant at a tertiary hospital in Abu Dhabi. Methods It is a retrospective study of all pediatric renal transplants performed at a single designated pediatric center between February 2010 ...
Ela Beyyumi +5 more
wiley +1 more source
International Journal of Endocrinology, Volume 2014, Issue 1, 2014., 2014 Various neurological and psychiatric manifestations have been recorded in children with adrenal disorders. Based on literature review and on personal case‐studies and case‐series we focused on the pathophysiological and clinical implications of glucocorticoid‐related, mineralcorticoid‐related, and catecholamine‐related paediatric nervous system ...
Vincenzo Salpietro +9 more
wiley +1 more source
Luteolin: A promising multifunctional natural flavonoid for human diseases
Phytotherapy Research, Volume 38, Issue 7, Page 3417-3443, July 2024.Luteolin, a flavonoid polyphenolic compound, has the ability to target multiple targets and pathways of the complex pathogenesis of related diseases, showing unique characteristics and benefits in the prevention or treatment of human diseases. Abstract Natural products are closely associated with human health.
Mingtao Zhu +9 more
wiley +1 more source
Neuropathic Cystinosis: A Rare Case Report
مجله كليه طب الكنديCystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana +2 more
doaj +1 more source
Nephropathic cystinosis in Iraqi children
, 2006 Al-Mosawi AJ. Nephropathic cystinosis in Iraqi children. The New Iraqi Journal of Medicine (ISSN:1817-5562, 1998037X) 2006; 2(2) :22-25.
Al-Mosawi,Aamir
core +1 more source
Dental implant placement in a patient with cystinosis. A case report
Journal of Oral Medicine and Oral Surgery, 2018 Introduction: Cystinosis is a rare genetic disease due to a defective transport of cystine out of the lysosomes, caused by a mutation of the gene encoding for the lysosomal carrier protein, the cystinosin. Cystine accumulation results in the formation of
Bretaudeau Clara +7 more
doaj +1 more source
Infantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene
Medical Science and Discovery, 2022 Objective: Cystinosis is a rare, autosomal recessive, lysosomal storage disorder characterized by cystine accumulation throughout the body, due to mutations in the gene encoding cystinosin, named CTNS. Infantile nephropathic cystinosis (INC), the most severe form of the disease and the most common cause of renal Fanconi syndrome (FS), starts with ...
Vaia Dokousli +4 more
openaire +1 more source
Investigating the pathophysiology and potential therapeutic approaches for nephropathic cystinosis [PDF]
, 2021 Nephropathic cystinosis is an autosomal recessive monogenic kidney disorder characterized by lysosomal accumulation of cystine throughout the body, causing organ damage, particularly the kidneys.
Jamalpoor, Amer
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