Results 71 to 80 of about 9,272 (239)

Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

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, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gamez, Judit García-Villoria, Enrique Lara Monteczuma, Pere Leyes, Nieves Martín-Begué, Federico Oppenheimer, Manel Perelló, Guillem Pintos Morell, Roser Torra, Anna Vila Santandreu, Ana Güell, Grupo T-CiS.bcn   +15 more
doaj   +1 more source

Non-invasive intradermal imaging of cystine crystals in cystinosis.

PLoS ONE, 2021
ImportanceDevelopment of noninvasive methodology to reproducibly measure tissue cystine crystal load to assess disease status and guide clinical care in cystinosis, an inherited lysosomal storage disorder characterized by widespread cystine crystal ...
Marya Bengali, Spencer Goodman, Xiaoying Sun, Magdalene A Dohil, Ranjan Dohil, Robert Newbury, Tatiana Lobry, Laura Hernandez, Corinne Antignac, Sonia Jain, Stephanie Cherqui   +10 more
doaj   +1 more source

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley   +1 more source

Cognitive functions and behavioural profiles in children with cystinosis treated with cysteamine and correlation with treatment duration

Middle East Current Psychiatry, 2022
Background Cystinosis is a rare autosomal recessive disease. Children with nephropathic cystinosis (NCTN) have evidence of intellectual dysfunction and behavioural abnormalities which are attributed to renal dysfunction, metabolic disarrangement, and ...
Fatma M. Atia, Weam Ryad Alfaleet, Somaya H. Shaheen, Neveen A. Soliman   +3 more
doaj   +1 more source

Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic Cystinosis

International Journal of Molecular Sciences, 2021
Diagnosis and cure for rare diseases represent a great challenge for the scientific community who often comes up against the complexity and heterogeneity of clinical picture associated to a high cost and time-consuming drug development processes. Here we
F. Bellomo, Ester De Leo, A. Taranta, L. Giaquinto, G. di Giovamberardino, S. Montefusco, L. Rega, A. Pastore, D. Medina, D. di Bernardo, M. D. De Matteis, F. Emma   +11 more
semanticscholar   +1 more source

Therapies for Mitochondrial Disease: Past, Present, and Future

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Megan Ball, Nicole J. van Bergen, Alison G. Compton, David R. Thorburn, Shamima Rahman, John Christodoulou   +5 more
wiley   +1 more source

Targeting Lysosomal Thiols for Immunogenic Cancer Cell Death

Angewandte Chemie, Volume 137, Issue 5, January 27, 2025.
We described reversible thiol binder 11, which accumulates in lysosomes of cancer cells, increases the level of ROS leading to their disruption and immunogenic cancer cell death. In murine sarcoma Nemeth‐Kellner model, 11 extends the lifespan of the mice from 21 to 85 days and cures 40 % of mice.
Anton Arkhypov, Insa Klemt, Galyna Bila, Dina Attia, Svitlana Chernii, Rostyslav Bilyy, Andriy Mokhir   +6 more
wiley   +2 more sources

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

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BMC Nephrology, 2017
Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito   +5 more
doaj   +1 more source

Synthetic Control of Water‐Stable Hybrid Perovskitoid Semiconductors

Advanced Materials, Volume 37, Issue 25, June 26, 2025.
Hybrid metal‐halide perovskites are promising semiconductors for optoelectronics, yet their water stability is problematic. A new synthesis method is developed using lead iodide and cysteamine under various pH conditions, forming stable perovskitoid structures.
Jiyoon Kim, Soumyadeep Ghosh, Nicholas W. G. Smith, Sunhao Liu, Yixuan Dou, Carla Slebodnick, Giti A. Khodaparast, Jin Qian, Lina Quan   +8 more
wiley   +1 more source