Results 11 to 20 of about 48,474 (154)
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis [PDF]
Türk Oftalmoloji DergisiCystinosis is a rare autosomal recessive lysosomal storage disease associated with high mortality and morbidity rates. The most distinctive ocular manifestations of cystinosis are photophobia, tearing, and blurred vision.
Sema Üzüm +4 more
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Infantile nephropathic cystinosis [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2011 Introduction. Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. Objective.
Peco-Antić Amira +6 more
doaj +5 more sources
Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis [PDF]
Journal of Cachexia, Sarcopenia and Muscle, 2016 Muscle wasting is a common complication in patients with infantile nephropathic cystinosis, but its mechanism and association with energy metabolism is not known. We define the metabolic phenotype in Ctns(-/-) mice, an established murine model of infantile nephropathic cystinosis, with focus on muscle wasting and energy homeostasis.Male Ctns(-/-) mice ...
Ping Zhou, Jianhua Shao, Wei Ding
exaly +9 more sources
Neuroretinal structure changes in infantile nephropathic cystinosis [PDF]
Orphanet Journal of Rare DiseasesBackground The aim of this study was to investigate the neuroretinal structure of patients with the lysosomal storage disease cystinosis. Methods In this retrospective cross-sectional analysis, optical coherence tomography (OCT) was used to measure the ...
Leonie Franziska Keidel +6 more
doaj +4 more sources
Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region [PDF]
ChildrenCystinosis is a rare systemic disease characterized by the accumulation of cystine in tissues, leading to multi-organ damage. Infantile nephropathic cystinosis is the dominant and severe form of cystinosis with critical renal manifestations that require ...
Hassan Aleid +9 more
doaj +3 more sources
A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis [PDF]
Human Vaccines & Immunotherapeutics, 2020 We present a 9-month old boy with cystinosis admitted to our hospital with the complaints of vomiting, diarrhea and seizure. While he was hospitalized in a pediatric intensive care unit due to worsening of his signs related to cystinosis, within hours ...
Gurkan Bozan +7 more
doaj +6 more sources
Testicular function in males with infantile nephropathic cystinosis [PDF]
Human Reproduction, 2021 AbstractSTUDY QUESTIONDo males with the rare lysosomal storage disease infantile nephropathic cystinosis (INC) have a chance of biological fatherhood?SUMMARY ANSWERCryostorage of semen could be an option for approximately 20% of young males with INC, with surgical sperm retrieval from the centre of the testes providing additional opportunities for ...
Joachim Wistuba +2 more
exaly +4 more sources
Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis [PDF]
Ophthalmology Journal, 2021 Cystinosis, as a rare disease, faces many difficulties with regard to appropriate early diagnostics and treatment. The aim of our study is to present current methods of diagnostics and treatment of ocular complications in an infantile nephropathic type ...
Małgorzata Kowalczyk +3 more
openaire +3 more sources
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
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Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Frontiers in Pediatrics, 2018 Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Sören Bäumner, Lutz T. Weber
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