Cystinosis: practical tools for diagnosis and treatment (Q34467739)

2 August 2017

1 reference

14 August 2023

Cystinosis: practical tools for diagnosis and treatment (English)

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2 August 2017

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7 November 2019

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7 November 2019

4

Elena N Levtchenko

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2 August 2017

Lambertus van den Heuvel

series ordinal

3

object named as

Lambertus P van den Heuvel

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2 August 2017

1

Martijn J Wilmer

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2 August 2017

2

Joost P Schoeber

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2 August 2017

24 August 2010

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2 August 2017

1 February 2011

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24 March 2019

22 April 2019

7 November 2019

14 August 2023

5 references

2 August 2017

24 March 2019

22 April 2019

7 November 2019

14 August 2023

26

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2 August 2017

2

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2 August 2017

205-215

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https://scigraph.springernature.com/pub.10.1007/s00467-010-1627-6

2 August 2017

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cites work

Growth retardation in children with cystinosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Rare presentation of cystinosis mimicking Bartter's syndrome: reports of two patients and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Nephropathic cystinosis: late complications of a multisystemic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Idiopathic intracranial hypertension in cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Pulmonary dysfunction in adults with nephropathic cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

New method for determining cystine in leukocytes and fibroblasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

CTNS mutations in patients with cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Hypercalciuria and ultrasound abnormalities in children with cystinosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Cysteamine therapy for children with nephropathic cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Pancreatic endocrine insufficiency in posttransplant cystinosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Renal allografts in cystinosis and mesangial demography

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Central nervous system involvement in nephropathic cystinosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Cortical atrophy and cognitive performance in infantile nephropathic cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Intra-leukocyte cystine in cystinosis treated with cysteamine

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-010-1627-6

Gel formulations for treatment of the ophthalmic complications in cystinosis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Long-term treatment of cystinosis in children with twice-daily cysteamine

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Fertility status in male cystinosis patients treated with cysteamine.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

The origin of halitosis in cystinotic patients due to cysteamine treatment.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Development of Fanconi syndrome during infancy in a patient with cystinosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Prenatal diagnosis of cystinosis by quantitative measurement of cystine in chorionic villi and cultured cells

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Behavioral profiles of children with infantile nephropathic cystinosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

A new mutation in two siblings with cystinosis presenting with Bartter syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Comparison of cystine determination in mixed leukocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

ACE inhibitorenalapril diminishes albuminuria in patients with cystinosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Defective proximal tubular function in a patient with I-cell disease

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Osteopenia and fractures in cystinotic children post renal transplantation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Prenatal Diagnosis of Cystinosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Renal transplantation in 22 children with nephropathic cystinosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016220

Long-term ocular manifestations in nephropathic cystinosis

27 October 2018

1 reference

12 December 2020

Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis

1 reference

12 December 2020

Renal allograft survival according to primary diagnosis: a report of the North American Pediatric Renal Transplant Cooperative Study

1 reference

12 December 2020

Treatment with recombinant human growth hormone in short children with nephropathic cystinosis: no evidence for increased deterioration rate of renal function. The European Study Group on Growth Hormone Treatment in Short Children with Nephropathic

1 reference

12 December 2020

Feeding problems in cystinosis

1 reference

12 December 2020

Growth and pubertal development in nephropathic cystinosis

1 reference

12 December 2020

Improved renal function in children with cystinosis treated with cysteamine

1 reference

12 December 2020

Inter- and intrafamilial variability in mucolipidosis II (I-cell disease)

1 reference

12 December 2020

Medullary nephrocalcinosis in nephropathic cystinosis

1 reference

12 December 2020

Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis

1 reference

12 December 2020

Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy

1 reference

12 December 2020

Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry

1 reference

12 December 2020

Infantile nephropathic cystinosis

1 reference

12 December 2020

Early development of the renal lesions in infantile cystinosis

1 reference

12 December 2020

Oral motor dysfunction and feeding difficulties in nephropathic cystinosis

1 reference

12 December 2020

[Changes in kidney function in cystinosis. I. Inulin, PAH and electrolyte clearance in various stages of the disease]

1 reference

12 December 2020

Biochemical comparisons of the adult and childhood forms of cystinosis

1 reference

12 December 2020

The early diagnosis of cystinosis

1 reference

12 December 2020

Hypothyroidism in cystinosis. A clinical, endocrinologic and histologic study involving sixteen patients with cystinosis

1 reference

12 December 2020

Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples

1 reference

12 December 2020

Elevated Cystine Levels in Cultured Skin Fibroblasts From Patients With I-Cell Disease

1 reference

12 December 2020

Renal failure in a sibship with late-onset cystinosis

1 reference

12 December 2020

Lysosomal cystine storage in cystinosis and mucolipidosis type II

1 reference

12 December 2020

10.1007/S00467-010-1627-6

Identifiers

DOI

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference