Cysteamine therapy for children with nephropathic cystinosis. - Test2 - elhamkhani - TriplyDB

Cysteamine therapy for children with nephropathic cystinosis.

Cysteamine therapy for children with nephropathic cystinosis.

http://www.wikidata.org/entity/Q44883941

about

Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns Identification and subcellular localization of a new cystinosin isoform The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region CTNS mutations in an American-based population of cystinosis patients Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides Cystinosis: a review Cystinosis: the evolution of a treatable disease Nephropathic cystinosis: an international consensus document CTNS mutations in patients with cystinosis Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.Clearance of corneal crystals in nephropathic cystinosis by topical cysteamine 0.5%.Worldwide view of nephropathic cystinosis: results from a survey from 30 countries Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study Pharmacokinetics of enteric-coated cysteamine bitartrate in healthy adults: a pilot study.Cystinosis: practical tools for diagnosis and treatment Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults.A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis.Effects of oral phosphocysteamine and rectal cysteamine in cystinosis.Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.Improvement in the renal prognosis in nephropathic cystinosis Pharmacokinetics of cysteamine bitartrate following gastrointestinal infusion.Cysteamine therapy: a treatment for cystinosis, not a cure.Genetic basis of cystinosis in Turkish patients: a single-center experience.Nephropathic cystinosis: late complications of a multisystemic disease.Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.Chemical individuality: concept and outlook.Improving the prognosis of nephropathic cystinosis.Cystinosis: a new perspective.Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy.Pharmacokinetic Studies of Cysteamine Bitartrate Delayed-Release.A study of the relative bioavailability of cysteamine hydrochloride, cysteamine bitartrate and phosphocysteamine in healthy adult male volunteers.Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence?Bartter syndrome associated with nephropathic cystinosis.Hirschsprung's disease with infantile nephropathic cystinosis.A cost-effectiveness analysis of the orphan drug cysteamine in the treatment of infantile cystinosis.

P2860

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P2860

Cysteamine therapy for children with nephropathic cystinosis.

http://www.wikidata.org/entity/Q44883941

description

1987 nî lūn-bûn

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1987年の論文

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1987年学术文章

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1987年学术文章

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1987年学术文章

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1987年学术文章

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1987年学术文章

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1987年學術文章

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1987年學術文章

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1987年學術文章

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name

Cysteamine therapy for children with nephropathic cystinosis.

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Cysteamine therapy for children with nephropathic cystinosis.

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type

label

Cysteamine therapy for children with nephropathic cystinosis.

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Cysteamine therapy for children with nephropathic cystinosis.

@nl

prefLabel

Cysteamine therapy for children with nephropathic cystinosis.

@en

Cysteamine therapy for children with nephropathic cystinosis.

@nl

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NEJM198704163161602

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The New England Journal of Medicine

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Cysteamine therapy for children with nephropathic cystinosis.

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Corden BJ

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Denman DW

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971-977

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scholarly article

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10.1056/NEJM198704163161602

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16

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