Results 41 to 50 of about 6,138 (207)

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

Saudi Journal of Kidney Diseases and Transplantation, 2016
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj   +1 more source

Cystinosis and two rare mutations in CTNS gene: two case reports

Journal of Medical Case Reports, 2022
Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport.
Sepideh Gholami Yarahmadi, Fatemeh Sarlaki, Saeid Morovvati   +2 more
doaj   +1 more source

CYSTINOSIS [PDF]

Pediatrics, 1960
Three cases of cystine storage disease occuring in one family are presented. In all three patients the diagnosis of cystine storage was established in vivo with the demonstration of cystine crystals in aspirated specimens of bone marrow and confirmed by paper chromatography of the urine in the two deceased siblings.
openaire   +1 more source

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. [PDF]

, 2019
Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β ...
Antignac, Corinne, Bailleux, Anne, Catz, Sergio D, Cherqui, Stephanie, Cheung, Wai W, Gubler, Marie-Claire, Guerrera, Ida Chiara, Lobry, Tatiana, Mak, Robert H, Miller, Roy, Montier, Tristan, Moore, Fiona, Nevo, Nathalie, Pouly, Daniel, Rocca, Celine J, Thomas, Lucie, Zhang, Jinzhong   +16 more
core  

Cysteamine inhibits lysosomal oxidation of low density lipoprotein in human macrophages and reduces atherosclerosis in mice [PDF]

, 2019
Background and aims: We have shown previously that low density lipoprotein (LDL) aggregated by vortexing is internalised by macrophages and oxidised by iron in lysosomes to form the advanced lipid/protein oxidation product ceroid.
Ahmad, Ahmad, Bachmanov, Baglione, Berliner, Besouw M, Bouazza, Dabbagh, David S. Leake, Devlin, Dohil, Dohil, El-Saadani, Esterbauer, Feroz Ahmad, Firth, Garner, Gerry, Goldstein, Heinemann, Javed, Jezegou, Jürgens, Kalatzis, Karunakaran, Khoo, Kritharides, Kuo, Leake, Lee, Liu, Marathe, Min-Oo, Mitchinson, Negre-Salvayre, Ojo, Omran, Oorni, Paigen, Palinski, Peter D. Weinberg, Pisoni, Portman, Quinn, Rajavashisth, Ruuth, Satchell, Schissel, Singh, Singh, Siow, Sneck, Steinberg, Steinberg, Tangirala, Tennezé, Tricon, Tsimikas, Ueda, Walters, Walters, Wen, Wilkins, Williams, Williams, Xu, Yichuan Wen, Yin, Yin, Yu, Yuan, Zahra Mohri, Zhang, Öörni   +73 more
core   +1 more source

Bioprinting Organs—Science or Fiction?—A Review From Students to Students

Advanced Healthcare Materials, Volume 15, Issue 16, 24 April 2026.
Bioprinting artificial organs has the potential to revolutionize the medical field. This is a comprehensive review of the bioprinting workflow delving into the latest advancements in bioinks, materials and bioprinting techniques, exploring the critical stages of tissue maturation and functionality.
Nicoletta Murenu, Camilla Mussoni, Mateo S. Andrade Mier, Paula Buettner, Nathaly Chicaiza‐Cabezas, Yi‐Yu Robin Dai, Jessica Faber, Maren Fiedler, Zan Lamberger, Xuen Jen Ng, Vanessa Moessler, Anna Rederer, Jonas Roeder, Sabrina Stecher, Katinka Theis, Jeanette Weigelt, Silvia Budday, Gregor Lang, Natascha Schaefer   +18 more
wiley   +1 more source

Transplantation in children [PDF]

, 1976
Kidney transplantation in very young children, less than 2 years of age, has usually failed, mainly because of difficulties maintaining these patients on hemodialysis long enough to permit retransplantation after loss of the original graft.
Charles W. Putnam, DeShazo, Kendrick A. Porter, Lilly, Lilly, Richard Weil, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl   +15 more
core   +1 more source

Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis

Nursing Open, Volume 13, Issue 4, April 2026.
ABSTRACT Aim To explore what is known about the intersection of mental health and rare diseases. Design Narrative review with peer‐reviewed literature from 2009 onwards. Methods The study searched for literature on these databases in September 2024: CINAHL, Scopus, Pubmed, Medline, Embase, and PsycInfo, as well as citation chaining and supplementary ...
Eileen Wu, Sophie Isobel, Paul Beckett
wiley   +1 more source

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +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