Nephropathic cystinosis: late complications of a multisystemic disease (Q37002855)

17 August 2017

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title

Nephropathic cystinosis: late complications of a multisystemic disease (English)

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Abderhalden–Kaufmann–Lignac syndrome

17 August 2017

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Galina Nesterova

1

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PubMed ID

18008091

17 August 2017

William Gahl

series ordinal

2

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17 August 2017

1 June 2008

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17 August 2017

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17 August 2017

23

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17 August 2017

6

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17 August 2017

863-878

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https://scigraph.springernature.com/pub.10.1007/s00467-007-0650-8

17 August 2017

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cites work

NIH conference. Cystinosis: progress in a prototypic disease

1 reference

https://api.crossref.org/works/10.1007%2FS00467-007-0650-8

Cysteamine therapy for children with nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-007-0650-8

Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-007-0650-8

Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-007-0650-8

A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-007-0650-8

Cystine storage in cultured myotubes from patients with nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-007-0650-8

Swallowing dysfunction in nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-007-0650-8

Neurologic complications in long-standing nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-007-0650-8

Nonabsorptive hydrocephalus associated with nephropathic cystinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-007-0650-8

Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-007-0650-8

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

21 January 2018

1 reference

12 December 2020

Pharmacological treatment of nephropathic cystinosis with cysteamine

1 reference

12 December 2020

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

1 reference

12 December 2020

Corneal transplant in boy with nephropathic cystinosis

1 reference

12 December 2020

Idiopathic intracranial hypertension in cystinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

CTNS mutations in an American-based population of cystinosis patients

1 reference

12 December 2020

Psychosocial intellectual development of children with infantile cystinosis and cerebral atrophy (author's transl)

1 reference

12 December 2020

Cystinosis: from gene to disease

1 reference

12 December 2020

Infantile cystinosis presenting as chronic constipation

1 reference

12 December 2020

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

1 reference

12 December 2020

Polyuria and proteinuria in cystinosis have no impact on renal transplantation. A report of the North American Pediatric Renal Transplant Cooperative Study

1 reference

12 December 2020

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

1 reference

12 December 2020

Cystinosis with marked atrophy of the kidneys and thyroid. Histological and ultrastructural studies in an autopsy case.

1 reference

12 December 2020

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

1 reference

12 December 2020

Cystinosis as a cause of noncirrhotic portal hypertension

1 reference

12 December 2020

Late symptoms in infantile cystinosis

1 reference

12 December 2020

Nephropathic cystinosis

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12 December 2020

Complications of nephropathic cystinosis after renal failure

1 reference

12 December 2020

Slowly deteriorating insulin secretion and C-peptide production characterizes diabetes mellitus in infantile cystinosis.

1 reference

12 December 2020

Tactile recognition in infantile nephropathic cystinosis.

1 reference

12 December 2020

The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis

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

Parenchymal organ cystine depletion with long-term cysteamine therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis

1 reference

12 December 2020

Infantile cystinosis and insulin-dependent diabetes mellitus

1 reference

12 December 2020

1 reference

12 December 2020

Cystinosis and a Dissecting Aortic Aneurysm in a 7-Year-Old Boy

1 reference

12 December 2020

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

1 reference

12 December 2020

The Fanconi syndrome of cystinosis: insights into the pathophysiology

1 reference

12 December 2020

Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy

1 reference

12 December 2020

Cysteamine treatment of nephropathic cystinosis

1 reference

12 December 2020

Hypercholesterolemia in children with cystinosis

1 reference

12 December 2020

Feeding problems in cystinosis

1 reference

12 December 2020

Inflammatory bowel disease in a patient with nephropathic cystinosis

1 reference

12 December 2020

Cystinosis and Gingival Hyperplasia: Demonstration of Cystine Crystals in Gingival Tissue and Unusual Aspects of Management

1 reference

12 December 2020

The various renal manifestations of the nephropathic form of cystinosis

1 reference

12 December 2020

Ocular changes in long-term evolution of infantile cystinosis

1 reference

12 December 2020

Pancreatic endocrine insufficiency in posttransplant cystinosis.

1 reference

12 December 2020

Veno-occlusive disease of the liver associated with cysteamine treatment of nephropathic cystinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

[Treatment of rickets caused by infantile cystinosis using 1 alpha-hydroxyvitamin D]

1 reference

12 December 2020

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

1 reference

12 December 2020

Cortical atrophy and cognitive performance in infantile nephropathic cystinosis

1 reference

12 December 2020

Mutations of CTNS causing intermediate cystinosis

1 reference

12 December 2020

Cystinosis: antibodies and healthy bodies

1 reference

12 December 2020

Massive tumour-like testicular cystine accumulation in a patient with infantile nephropathic cystinosis

1 reference

12 December 2020

Course of nephropathic cystinosis after age 10 years

1 reference

12 December 2020

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

1 reference

12 December 2020

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

1 reference

12 December 2020

Long-term treatment of infantile nephropathic cystinosis with cysteamine

1 reference

12 December 2020

Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Effect of chronic salt and water loading on the tubular defects of a child with Fanconi syndrome (cystinosis)

1 reference

12 December 2020

Understanding intestinal cysteamine bitartrate absorption

1 reference

12 December 2020

The bone marrow in hereditary cystinosis

1 reference

12 December 2020

Lysosomal cystine transport in cystinosis variants and their parents

1 reference

12 December 2020

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

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12 December 2020

Pulmonary dysfunction in adults with nephropathic cystinosis

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12 December 2020

Improved renal function in children with cystinosis treated with cysteamine

1 reference

12 December 2020

Nodular regenerative hyperplasia and severe portal hypertension in cystinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis

1 reference

12 December 2020

Oral motor dysfunction and feeding difficulties in nephropathic cystinosis

1 reference

12 December 2020

Myopathy and cystine storage in muscles in a patient with 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

Osteopenia and fractures in cystinotic children post renal transplantation

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12 December 2020

Follow-up and treatment of adults with cystinosis in the Netherlands

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12 December 2020

[Retinal changes in cystinosis]

1 reference

12 December 2020

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations

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12 December 2020

Cerebral atrophy and nephropathic cystinosis

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12 December 2020

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

1 reference

12 December 2020

ACE inhibitorenalapril diminishes albuminuria in patients with cystinosis

1 reference

12 December 2020

Early-onset chronic renal failure as a presentation of infantile nephropathic cystinosis

1 reference

12 December 2020

Perioperative care of the patient with nephropathic cystinosis

1 reference

12 December 2020

Lysosomal cystine counter-transport in heterozygotes for cystinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Psychosocial and intellectual development in 12 patients with infantile nephropathic cystinosis.

1 reference

12 December 2020

Ocular manifestations in cystinosis

1 reference

12 December 2020

Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo

1 reference

12 December 2020

Behavioral profiles of children with infantile nephropathic cystinosis

1 reference

12 December 2020

A deeper look into cysteamine absorption for the treatment of cystinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Hepatic fibrosis associated with hereditary cystinosis: a novel form of noncirrhotic portal hypertension.

1 reference

12 December 2020

Decreased sweat production in cystinosis

1 reference

12 December 2020

CTNS mutations in African American patients with cystinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurophysiological testing in long-standing cystinosis

1 reference

12 December 2020

Lysosomes in cell death

1 reference

12 December 2020

1 reference

12 December 2020

[Cystinosis from childhood to adulthood]

1 reference

12 December 2020

Renal proximal tubular epithelium from patients with nephropathic cystinosis: immortalized cell lines as in vitro model systems

1 reference

12 December 2020

Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation

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12 December 2020

Growth and pubertal development in nephropathic cystinosis

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12 December 2020

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12 December 2020

Brain lesions in a case of cystinosis

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12 December 2020

Glomerular lesions in patients with late-onset cystinosis with massive proteinuria

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12 December 2020

Medullary nephrocalcinosis in nephropathic cystinosis

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12 December 2020

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

1 reference

12 December 2020

Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome

1 reference

12 December 2020

Endocrine studies in cystinosis: compensated primary hypothyroidism

1 reference

12 December 2020

Diabetes mellitus in patients with infantile cystinosis after renal transplantation.

1 reference

12 December 2020

Early oral cysteamine therapy for nephropathic cystinosis

1 reference

12 December 2020

Clinical and molecular aspects of nephropathic cystinosis

1 reference

12 December 2020

Distal vacuolar myopathy in nephropathic cystinosis

1 reference

12 December 2020

Removal of corneal crystals by topical cysteamine in nephropathic cystinosis

1 reference

12 December 2020

From gene to disease: cystinosis

1 reference

12 December 2020

Early development of the renal lesions in infantile cystinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemical follow-up in late-treated nephropathic cystinosis

1 reference

12 December 2020

Infantile cystinosis: a reappraisal of early and late symptoms.

1 reference

12 December 2020

Pituitary resistance to thyroid hormone in cystinosis.

1 reference

12 December 2020

Central nervous system involvement in nephropathic cystinosis.

1 reference

12 December 2020

Hypothyroidism in children with cystinosis

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12 December 2020

Cystinosis coming of age.

1 reference

12 December 2020

Calcification and ossification of the posterior and longitudinal ligament of the cervical spine(author's transl)

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12 December 2020

Wound healing in aged animals--effects of locally applied transforming growth factor beta 2 in different model systems

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12 December 2020

10.1007/S00467-007-0650-8

Identifiers

DOI

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17 August 2017

1 reference

PubMed ID

18008091