Results 61 to 70 of about 1,339 (134)

Unlocking the Mysteries of Rare Disease Drug Development: A Beginner's Guide for Clinical Pharmacologists

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, Bilal AbuAsal, Jeffrey S. Barrett, Karim Azer, Yuen Yi Hon, Salwa Albusaysi, Elizabeth Shang, Meng Wang, Maria Burian, Noha Rayad   +9 more
wiley   +1 more source

A Voltammetric Sensor Based on NiO Nanoparticle‐Modified Carbon‐Paste Electrode for Determination of Cysteamine in the Presence of High Concentration of Tryptophan

Journal of Chemistry, Volume 2013, Issue 1, 2013., 2013
A carbon‐paste electrode modified with ferrocenecarboxaldehyde and NiO nanoparticle (NiO/NPs) was used for the sensitive and selective voltammetric determination of cysteamine in the presence of tryptophan. The oxidation of cysteamine at the modified electrode was investigated by cyclic voltammetry (CV), chronoamperometry, and square‐wave voltammetry ...
Hassan Karimi-Maleh, Maryam Salimi-Amiri, Fatemeh Karimi, Mohammad A. Khalilzadeh, Mehdi Baghayeri, Yehia Mechref   +5 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, Yanping Sun, Yang Su, Wei Guan, Yu Wang, Jianwei Han, Shuang Wang, Bingyou Yang, Qiuhong Wang, Haixue Kuang   +9 more
wiley   +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, Paredes Francesca Siu, Sergheraert Johan, Massa Luciana, Laurence Sébastien, Diebold Marie-Hélène, Lefèvre Benoît, Mauprivez Cédric   +7 more
doaj   +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, Mohammed El-Naggari, Rana Al-Sinawi, Alexander P. Chacko, Anuradha Ganesh, Ibtisam El Nour   +5 more
doaj  

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis 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, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source

Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy

Egyptian Pediatric Association Gazette
Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy, Rasha Selim Mahmoud, Mohamed A. Elmonem, Sally Emadeldin, Neveen Abd Elmonem Soliman   +4 more
doaj   +1 more source

The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series

Ophthalmology and Therapy, 2018
Introduction Infantile nephropathic cystinosis (INC) is an autosomal recessive lysosomal disorder in which patients develop deposits of cystine crystals in their kidneys and corneas from a young age.
Susmito Biswas, Krishanthy Sornalingam
doaj   +1 more source

Successful Management of a Neglected Case of Nephropathic Cystinosis

Sultan Qaboos University Medical Journal, 2014
Cystinosis is a rare metabolic disorder characterised by lysosomal cystine accumulation leading to multi-organ damage; clinically, the kidneys are the first organ affected. Respiratory insufficiency caused by overall respiratory muscle myopathy is a life-
Mohamed A. El-Naggari, Ibtisam Elnour, Hussein Al-Kindy, Aamir Al-Shahrabally, Anas A. Abdelmogheth   +4 more
doaj   +2 more sources

Intermediate type cystinosis with a novel CTNS variant in a child: a case report

Journal of Rare Diseases
Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin, Ghada Alzhrany, Reem Mohamed, Wafa Daw, Bashiar Alabbasi, Muawia Ahmed, Yassir Bakhiet, Yomna Aloufi, Majed Aloufi   +8 more
doaj   +1 more source