Results 31 to 40 of about 3,344 (169)
Intermediate cystinosis: a case report of 10-year treatment with cysteamine
BMC NephrologyBackground Cystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases.
Mariko Kawamura +9 more
doaj +1 more source
Magnetic Resonance in Medicine, Volume 96, Issue 1, Page 448-459, July 2026.ABSTRACT Purpose To develop and validate a practical, open‐source framework to overcome common issues in inline deployment of established offline MR reconstruction, including (1) scan disruption from lengthy reconstructions, (2) limited support for multi‐scan input reconstructions, (3) needs to adapt scripts for different raw‐data formats, and (4 ...
Zihan Ning +26 more
wiley +1 more source
Paediatric renal transplantation: Paediatric surgeons' perspective
Surgical Practice, Volume 30, Issue 2, Page 117-122, May 2026.Abstract Renal transplantation is the most effective treatment for paediatric end‐stage renal disease (ESRD), offering advantages in survival, growth and neurocognitive development that surpass other renal replacement therapies (RRT). The paediatric setting, however, introduces distinct complexities that distinguish it from adult practice.
Adrian Chi‐heng Fung +3 more
wiley +1 more source
Egyptian Pediatric Association GazetteBackground Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy +4 more
doaj +1 more source
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 +2 more
doaj +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 +18 more
wiley +1 more source
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 +2 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