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Nephropathic cystinosis

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Nephropathic cystinosis" returned 2 free, full-text review articles. First 2 results:
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis.
Last Updated: Dec 02, 2018

To summarize available clinical evidence for cysteamine bitartrate preparations in the treatment of nephropathic cystinosis as identified through a systematic literature review (SLR).

Nephropathic cystinosis: an update.
Last Updated: Feb 02, 2018

Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes.

Nephropathic cystinosis: an international consensus document.
Last Updated: Dec 02, 2018

Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of ...

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2 Free Review Articles 9 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Nephropathic cystinosis" returned 1 free, full-text editorial articles. First 1 results:
Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease.
Last Updated: Dec 17, 2019

Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are ...

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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Nephropathic cystinosis" returned 53 free, full-text research articles. First few results:
Asymmetrical Ocular Manifestations of Nephropathic Cystinosis; A Case Report.
Last Updated: Feb 03, 2020

BACKGROUND Infantile nephropathic cystinosis is the most common and severe variant of cystinosis, which is a rare autosomal recessive condition related to a defect in the transportation of the protein cystine resulting in its deposition in various organs. Due to the rarity of this ...

Therapeutic Problems and Pregnancy in a Patient With Infantile Nephropathic Cystinosis: A Case Report.
Last Updated: May 14, 2019

Cystinosis is a rare genetic disorder characterized by the abnormal accumulation of cystine in the lysosomes of various tissues and organs leading to their dysfunction. The most common type is the infantile nephropathic cystinosis which without treatment leads to renal failure and ...

Swallowing dysfunction in patients with nephropathic cystinosis.
Last Updated: Nov 07, 2019

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like myopathy and swallowing dysfunction. Dysphagia ...

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53 Free Research Articles 173 Research Articles