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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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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 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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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 50 free, full-text research articles. First few results:
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 ...

Ocular changes in nephropathic cystinosis: The course of the gold-dust.
Last Updated: Jun 10, 2019

Cystinosis is an autosomal recessive inherited lysosomal storage disease with an incidence of 1:100.000 up to 1:200.000 caused by a gene mutation of a lysosomal transport protein resulting in deposition of cystine in lysosomes in all cells and tissues. In the cornea, crystalline, ...

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50 Free Research Articles 168 Research Articles