We are analyzing https://link.springer.com/article/10.1186/s13023-016-0426-y.

Title:
Cystinosis: a review | Orphanet Journal of Rare Diseases
Description:
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated. Other affected organs include eyes, thyroid, pancreas, gonads, muscles and CNS. Leucocyte cystine assay is the cornerstone for both diagnosis and therapeutic monitoring of the disease. Several lines of treatment are available for cystinosis including the cystine depleting agent cysteamine, renal replacement therapy, hormonal therapy and others; however, no curative treatment is yet available. In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main topics of future research in cystinosis.
Website Age:
28 years and 1 months (reg. 1997-05-29).

Matching Content Categories {📚}

Science
Health & Fitness
Education

Content Management System {📝}

What CMS is link.springer.com built with?

Custom-built

No common CMS systems were detected on Link.springer.com, and no known web development framework was identified.

Traffic Estimate {📈}

What is the average monthly size of link.springer.com audience?

🌠 Phenomenal Traffic: 5M - 10M visitors per month

Based on our best estimate, this website will receive around 5,000,019 visitors per month in the current month.
However, some sources were not loaded, we suggest to reload the page to get complete results.

check SE Ranking
check Ahrefs
check Similarweb
check Ubersuggest
check Semrush

How Does Link.springer.com Make Money? {💸}

The income method remains a mystery to us.

The purpose of some websites isn't monetary gain; they're meant to inform, educate, or foster collaboration. Everyone has unique reasons for building websites. This could be an example. Link.springer.com might be making money, but it's not detectable how they're doing it.

Keywords {🔍}

cystinosis, pubmed, google, scholar, article, cystine, patients, cas, renal, cysteamine, disease, nephropathic, therapy, treatment, pediatr, gahl, levtchenko, van, nephrol, central, growth, clinical, children, age, early, syndrome, cells, diagnosis, cystinotic, lysosomal, ctns, reported, heuvel, fanconi, therapeutic, crystals, infantile, function, mutations, levels, protein, complications, gene, years, med, schneider, storage, failure, kidney, months,

Topics {✒️}

era-net e-rare2 jtc2014 3–20 nmol half-cystine/mg protein 0 nmol half-cystine/mg protein article download pdf de graaf-hess ac gaide chevronnay hp c-peptide production leading saguenay-lac-st-jean chronic renal failure lysosomal lysine/arginine transporter potent gastric acid-secretagogue auditory short-term memory reflectance confocal microscopy full size image intra-lysosomal cystine accumulation fewer long-term complications oval-shaped dermal particles end-stage renal disease abderhalden-kaufmann-lignac syndrome long-term ocular manifestations rarely exceed 1 mg/dl pure c57bl/6 background excellent long-term outcome long-term carnitine supplementation autosomal recessive disease oral cystine-depleting therapy leucocyte cystine level long-term cysteamine therapy poor cystine-depleting therapy de graaf-hess hereditary fanconi syndromes long-standing nephropathic cystinosis school-aged cystinosis patients enteric-coated capsule tandem mass spectrometry x-linked agammaglobulinemia post-transplant cystinotic patients extra-renal finding affecting proximal tubular damage lignac-fanconi syndrome �hereditary cystine disease” lc-ms/ms lc-ms/ms [83] ctns bmc genomics lc/ms-ms van den heuvel genetic background privacy choices/manage cookies elena levtchenko proximal tubular adaptation

Schema {🗺️}

WebPage:
      mainEntity:
         headline:Cystinosis: a review
         description:Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated. Other affected organs include eyes, thyroid, pancreas, gonads, muscles and CNS. Leucocyte cystine assay is the cornerstone for both diagnosis and therapeutic monitoring of the disease. Several lines of treatment are available for cystinosis including the cystine depleting agent cysteamine, renal replacement therapy, hormonal therapy and others; however, no curative treatment is yet available. In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main topics of future research in cystinosis.
         datePublished:2016-04-22T00:00:00Z
         dateModified:2016-04-22T00:00:00Z
         pageStart:1
         pageEnd:17
         license:http://creativecommons.org/publicdomain/zero/1.0/
         sameAs:https://doi.org/10.1186/s13023-016-0426-y
         keywords:
            Cystine
            Cysteamine
            Cystinosis
            Reflectance Confocal Microscopy
            Cystine Level
            Medicine/Public Health
            general
            Pharmacology/Toxicology
            Human Genetics
         image:
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1186%2Fs13023-016-0426-y/MediaObjects/13023_2016_426_Fig1_HTML.gif
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1186%2Fs13023-016-0426-y/MediaObjects/13023_2016_426_Fig2_HTML.gif
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1186%2Fs13023-016-0426-y/MediaObjects/13023_2016_426_Fig3_HTML.gif
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1186%2Fs13023-016-0426-y/MediaObjects/13023_2016_426_Fig4_HTML.gif
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1186%2Fs13023-016-0426-y/MediaObjects/13023_2016_426_Fig5_HTML.gif
         isPartOf:
            name:Orphanet Journal of Rare Diseases
            issn:
               1750-1172
            volumeNumber:11
            type:
               Periodical
               PublicationVolume
         publisher:
            name:BioMed Central
            logo:
               url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
               type:ImageObject
            type:Organization
         author:
               name:Mohamed A. Elmonem
               affiliation:
                     name:University Hospitals Leuven & KU Leuven
                     address:
                        name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
                        type:PostalAddress
                     type:Organization
                     name:Cairo University
                     address:
                        name:Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Koenraad R. Veys
               affiliation:
                     name:University Hospitals Leuven & KU Leuven
                     address:
                        name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Neveen A. Soliman
               affiliation:
                     name:Cairo University
                     address:
                        name:Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt
                        type:PostalAddress
                     type:Organization
                     name:EGORD, Egyptian group of orphan renal diseases
                     address:
                        name:EGORD, Egyptian group of orphan renal diseases, Cairo, Egypt
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Maria van Dyck
               affiliation:
                     name:University Hospitals Leuven & KU Leuven
                     address:
                        name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Lambertus P. van den Heuvel
               affiliation:
                     name:University Hospitals Leuven & KU Leuven
                     address:
                        name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
                        type:PostalAddress
                     type:Organization
                     name:Radboud University Medical Center
                     address:
                        name:Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Elena Levtchenko
               affiliation:
                     name:University Hospitals Leuven & KU Leuven
                     address:
                        name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
                        type:PostalAddress
                     type:Organization
               email:[email protected]
               type:Person
         isAccessibleForFree:1
         type:ScholarlyArticle
      context:https://schema.org
ScholarlyArticle:
      headline:Cystinosis: a review
      description:Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated. Other affected organs include eyes, thyroid, pancreas, gonads, muscles and CNS. Leucocyte cystine assay is the cornerstone for both diagnosis and therapeutic monitoring of the disease. Several lines of treatment are available for cystinosis including the cystine depleting agent cysteamine, renal replacement therapy, hormonal therapy and others; however, no curative treatment is yet available. In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main topics of future research in cystinosis.
      datePublished:2016-04-22T00:00:00Z
      dateModified:2016-04-22T00:00:00Z
      pageStart:1
      pageEnd:17
      license:http://creativecommons.org/publicdomain/zero/1.0/
      sameAs:https://doi.org/10.1186/s13023-016-0426-y
      keywords:
         Cystine
         Cysteamine
         Cystinosis
         Reflectance Confocal Microscopy
         Cystine Level
         Medicine/Public Health
         general
         Pharmacology/Toxicology
         Human Genetics
      image:
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1186%2Fs13023-016-0426-y/MediaObjects/13023_2016_426_Fig1_HTML.gif
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1186%2Fs13023-016-0426-y/MediaObjects/13023_2016_426_Fig2_HTML.gif
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1186%2Fs13023-016-0426-y/MediaObjects/13023_2016_426_Fig3_HTML.gif
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1186%2Fs13023-016-0426-y/MediaObjects/13023_2016_426_Fig4_HTML.gif
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1186%2Fs13023-016-0426-y/MediaObjects/13023_2016_426_Fig5_HTML.gif
      isPartOf:
         name:Orphanet Journal of Rare Diseases
         issn:
            1750-1172
         volumeNumber:11
         type:
            Periodical
            PublicationVolume
      publisher:
         name:BioMed Central
         logo:
            url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
            type:ImageObject
         type:Organization
      author:
            name:Mohamed A. Elmonem
            affiliation:
                  name:University Hospitals Leuven & KU Leuven
                  address:
                     name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
                     type:PostalAddress
                  type:Organization
                  name:Cairo University
                  address:
                     name:Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Koenraad R. Veys
            affiliation:
                  name:University Hospitals Leuven & KU Leuven
                  address:
                     name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Neveen A. Soliman
            affiliation:
                  name:Cairo University
                  address:
                     name:Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt
                     type:PostalAddress
                  type:Organization
                  name:EGORD, Egyptian group of orphan renal diseases
                  address:
                     name:EGORD, Egyptian group of orphan renal diseases, Cairo, Egypt
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Maria van Dyck
            affiliation:
                  name:University Hospitals Leuven & KU Leuven
                  address:
                     name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Lambertus P. van den Heuvel
            affiliation:
                  name:University Hospitals Leuven & KU Leuven
                  address:
                     name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
                     type:PostalAddress
                  type:Organization
                  name:Radboud University Medical Center
                  address:
                     name:Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Elena Levtchenko
            affiliation:
                  name:University Hospitals Leuven & KU Leuven
                  address:
                     name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
                     type:PostalAddress
                  type:Organization
            email:[email protected]
            type:Person
      isAccessibleForFree:1
["Periodical","PublicationVolume"]:
      name:Orphanet Journal of Rare Diseases
      issn:
         1750-1172
      volumeNumber:11
Organization:
      name:BioMed Central
      logo:
         url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
         type:ImageObject
      name:University Hospitals Leuven & KU Leuven
      address:
         name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
         type:PostalAddress
      name:Cairo University
      address:
         name:Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt
         type:PostalAddress
      name:University Hospitals Leuven & KU Leuven
      address:
         name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
         type:PostalAddress
      name:Cairo University
      address:
         name:Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt
         type:PostalAddress
      name:EGORD, Egyptian group of orphan renal diseases
      address:
         name:EGORD, Egyptian group of orphan renal diseases, Cairo, Egypt
         type:PostalAddress
      name:University Hospitals Leuven & KU Leuven
      address:
         name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
         type:PostalAddress
      name:University Hospitals Leuven & KU Leuven
      address:
         name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
         type:PostalAddress
      name:Radboud University Medical Center
      address:
         name:Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands
         type:PostalAddress
      name:University Hospitals Leuven & KU Leuven
      address:
         name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
         type:PostalAddress
ImageObject:
      url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
Person:
      name:Mohamed A. Elmonem
      affiliation:
            name:University Hospitals Leuven & KU Leuven
            address:
               name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
            name:Cairo University
            address:
               name:Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt
               type:PostalAddress
            type:Organization
      name:Koenraad R. Veys
      affiliation:
            name:University Hospitals Leuven & KU Leuven
            address:
               name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
      name:Neveen A. Soliman
      affiliation:
            name:Cairo University
            address:
               name:Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt
               type:PostalAddress
            type:Organization
            name:EGORD, Egyptian group of orphan renal diseases
            address:
               name:EGORD, Egyptian group of orphan renal diseases, Cairo, Egypt
               type:PostalAddress
            type:Organization
      name:Maria van Dyck
      affiliation:
            name:University Hospitals Leuven & KU Leuven
            address:
               name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
      name:Lambertus P. van den Heuvel
      affiliation:
            name:University Hospitals Leuven & KU Leuven
            address:
               name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
            name:Radboud University Medical Center
            address:
               name:Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands
               type:PostalAddress
            type:Organization
      name:Elena Levtchenko
      affiliation:
            name:University Hospitals Leuven & KU Leuven
            address:
               name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
      name:Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt
      name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
      name:Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt
      name:EGORD, Egyptian group of orphan renal diseases, Cairo, Egypt
      name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
      name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
      name:Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands
      name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium

External Links {🔗}(386)

Analytics and Tracking {📊}

Google Tag Manager

Libraries {📚}

Clipboard.js
Prism.js

CDN Services {📦}

Crossref

4.84s.

LINK . SPRINGER . COM {}