(Q26863651)

Crossref

William A. Gahl

series ordinal

2

1 reference

Crossref

language of work or name

1 reference

January 2013

1 reference

1 January 2013

2 references

24 March 2019

22 April 2019

3 references

24 March 2019

22 April 2019

28

1 reference

issue

1

1 reference

page(s)

51-9

1 reference

https://scigraph.springernature.com/pub.10.1007/s00467-012-2242-5

exact match

0 references

cites work

Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up

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21 March 2017

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Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

21 March 2017

1 reference

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Cystinosis: from gene to disease

21 March 2017

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Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

21 March 2017

1 reference

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Mutations of CTNS causing intermediate cystinosis

21 March 2017

1 reference

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Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)

21 March 2017

1 reference

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Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine

21 March 2017

1 reference

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Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis

21 March 2017

1 reference

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The history of cystinosis: lessons for clinical management

21 March 2017

1 reference

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Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Successful treatment of the murine model of cystinosis using bone marrow cell transplantation.

28 September 2017

1 reference

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Urinary proteome pattern in children with renal Fanconi syndrome

28 September 2017

1 reference

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Nephropathic cystinosis: late complications of a multisystemic disease

28 September 2017

1 reference

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A review of the role of enhanced apoptosis in the pathophysiology of cystinosis

28 September 2017

1 reference

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Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever.

28 September 2017

1 reference

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High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation

28 September 2017

1 reference

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First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future

28 September 2017

1 reference

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Potential role of apoptosis in development of the cystinotic phenotype

28 September 2017

1 reference

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Idiopathic intracranial hypertension in cystinosis

28 September 2017

1 reference

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Pharmacological treatment of nephropathic cystinosis with cysteamine

28 September 2017

1 reference

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Cystinosis: antibodies and healthy bodies

28 September 2017

1 reference

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Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Neurobehavioral consequences of a genetic metabolic disorder: visual processing deficits in infantile nephropathic cystinosis.

28 September 2017

1 reference

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Pulmonary dysfunction in adults with nephropathic cystinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

The Fanconi syndrome of cystinosis: insights into the pathophysiology

28 September 2017

1 reference

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Renal transplantation for infantile cystinosis: long-term follow-up

28 September 2017

1 reference

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The cellular basis of Fanconi syndrome

28 September 2017

1 reference

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Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome

28 September 2017

1 reference

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Cystinosis coming of age.

28 September 2017

1 reference

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NIH conference. Cystinosis: progress in a prototypic disease

28 September 2017

1 reference

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Endocrine studies in cystinosis: compensated primary hypothyroidism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal?

28 September 2017

1 reference

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Cysteamine therapy for children with nephropathic cystinosis

31 May 2018

1 reference

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Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Nodular regenerative hyperplasia and severe portal hypertension in cystinosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Long-term follow-up of well-treated nephropathic cystinosis patients

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Cystinosis. A clinicopathological conference. 'From toddlers to twenties and beyond' Adult-Paediatric Nephrology Interface Meeting, Manchester 2001

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Osteopenia and fractures in cystinotic children post renal transplantation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Long-term treatment with growth hormone in short children with nephropathic cystinosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Diabetes mellitus in patients with infantile cystinosis after renal transplantation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Developmental toxicity of cysteamine in the rat: effects on embryo-fetal development.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis. European Collaborative Study on Cystinosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

Infantile cystinosis: a reappraisal of early and late symptoms.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3505515

28 November 2018

Nephropathic cystinosis

1 reference

12 December 2020

Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy

1 reference

12 December 2020

Classic nephropathic cystinosis as an adult disease

1 reference

12 December 2020

Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy

1 reference

12 December 2020

Inflammatory bowel disease in a patient with nephropathic cystinosis

1 reference

12 December 2020

Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis

1 reference

12 December 2020

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

1 reference

12 December 2020

Improved renal function in children with cystinosis treated with cysteamine

1 reference

12 December 2020

Oral motor dysfunction and feeding difficulties in nephropathic cystinosis

1 reference

12 December 2020

Can cystinosis cause coronary artery dilatation?

1 reference

12 December 2020

Pituitary-testicular function in nephropathic cystinosis

1 reference

12 December 2020

The Fanconi syndrome and mechanisms of tubular transport dysfunction

1 reference

12 December 2020

Bone marrow findings in hereditary cystinosis with renal failure

1 reference

12 December 2020

Decreased sweat production in cystinosis

1 reference

12 December 2020

Growth and pubertal development in nephropathic cystinosis

1 reference

12 December 2020

Medullary nephrocalcinosis in nephropathic cystinosis

1 reference

12 December 2020

Distal vacuolar myopathy in nephropathic cystinosis

1 reference

12 December 2020

Early development of the renal lesions in infantile cystinosis

1 reference

12 December 2020

Biochemical follow-up in late-treated nephropathic cystinosis

1 reference

12 December 2020

10.1007/S00467-012-2242-5

Identifiers

DOI

1 reference

Dimensions Publication ID

2151764

1042782296

0 references

2151764

1 reference

1 reference

1 reference