Nephropathic cystinosis: late complications of a multisystemic disease.
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Cystinosis: a reviewCystinosis: the evolution of a treatable diseaseNephropathic cystinosis: an international consensus documentBrief reports: Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubesTRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletionUpregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.Cystine accumulation attenuates insulin release from the pancreatic β-cell due to elevated oxidative stress and decreased ATP levels.A retro-inverso TAT-like peptide designed to deliver cysteamine to cells.Worldwide view of nephropathic cystinosis: results from a survey from 30 countriesCraniofacial and dental findings in cystinosis.Corneal transduction by intra-stromal injection of AAV vectors in vivo in the mouse and ex vivo in human explants.Therapeutic approaches for lysosomal storage diseasesStem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro.Inhibition of intracellular clusterin attenuates cell death in nephropathic cystinosis.Treatment of corneal cystine crystal accumulation in patients with cystinosis.Cystinosis: practical tools for diagnosis and treatmentThat eagle covering me: transitioning and connected autonomy for emerging adults with cystinosis.Non-invasive measurements of atherosclerosis in adult cystinosis patients.Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosisCysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults.The history of cystinosis: lessons for clinical management.Cysteamine therapy: a treatment for cystinosis, not a cure.Corrective GUSB transfer to the canine mucopolysaccharidosis VII cornea using a helper-dependent canine adenovirus vector.Chiari I Malformation in Nephropathic Cystinosis[Peculiarity of infantile cystinosis in Tunisian children].Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis.Two novel CTNS mutations in cystinosis patients in Thailand.Rare presentation of cystinosis mimicking Bartter's syndrome: reports of two patients and review of the literature.Clinical utility gene card for: cystinosis.Novel techniques and newer markers for the evaluation of "proximal tubular dysfunction".Genetic analysis in mice identifies cysteamine as a novel partner for artemisinin in the treatment of malaria.A patient with cystinosis presenting like bartter syndrome and review of literature.Lysosome dysfunction in the pathogenesis of kidney diseases.The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.Nephropathic Cystinosis: First reported case in Oman.Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis.A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis.Cystinosis presenting with findings of Bartter syndrome.A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital.
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Nephropathic cystinosis: late complications of a multisystemic disease.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 2008
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vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Nephropathic cystinosis: late complications of a multisystemic disease.
@en
Nephropathic cystinosis: late complications of a multisystemic disease.
@nl
type
label
Nephropathic cystinosis: late complications of a multisystemic disease.
@en
Nephropathic cystinosis: late complications of a multisystemic disease.
@nl
prefLabel
Nephropathic cystinosis: late complications of a multisystemic disease.
@en
Nephropathic cystinosis: late complications of a multisystemic disease.
@nl
P2860
P1433
P1476
Nephropathic cystinosis: late complications of a multisystemic disease.
@en
P2093
Galina Nesterova
William Gahl
P2860
P2888
P304
P356
10.1007/S00467-007-0650-8
P577
2008-06-01T00:00:00Z