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Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblastsIdentification and subcellular localization of a new cystinosin isoformCystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase.Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up.Cystinosis: a reviewCystinosis: the evolution of a treatable diseaseDrug treatment of inborn errors of metabolism: a systematic reviewIs genetic rescue of cystinosis an achievable treatment goal?Nephropathic cystinosis: an international consensus documentRadiological and clinical characterization of the lysosomal storage disorders: non-lipid disordersDisruption of a cystine transporter downregulates expression of genes involved in sulfur regulation and cellular respiration.Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapyQuantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouseEndo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosinTRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletionGenome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes.Lack of endothelial nitric-oxide synthase leads to progressive focal renal injuryUpregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.Angle-closure glaucoma in a patient with the nanophthalmos-ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex.Cystine accumulation attenuates insulin release from the pancreatic β-cell due to elevated oxidative stress and decreased ATP levels.Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters.Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneysInflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis.A retro-inverso TAT-like peptide designed to deliver cysteamine to cells.Mitochondrial autophagy promotes cellular injury in nephropathic cystinosisAnalysis of CTNS gene transcripts in nephropathic cystinosisWorldwide view of nephropathic cystinosis: results from a survey from 30 countriesCraniofacial and dental findings in cystinosis.Neurological impairment in nephropathic cystinosis: motor coordination deficits.Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle traffickingPharmacokinetics of enteric-coated cysteamine bitartrate in healthy adults: a pilot study.Quality of life is improved and kidney function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate.A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport.Neurocognitive functioning in school-aged cystinosis patientsInhibition of intracellular clusterin attenuates cell death in nephropathic cystinosis.Treatment of corneal cystine crystal accumulation in patients with cystinosis.Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis.Cystinosis: practical tools for diagnosis and treatmentThat eagle covering me: transitioning and connected autonomy for emerging adults with cystinosis.
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Cystinosis
@ast
Cystinosis
@en
Cystinosis
@en-gb
Cystinosis
@nl
type
label
Cystinosis
@ast
Cystinosis
@en
Cystinosis
@en-gb
Cystinosis
@nl
prefLabel
Cystinosis
@ast
Cystinosis
@en
Cystinosis
@en-gb
Cystinosis
@nl
P2093
P3181
P356
P1476
Cystinosis.
@en
P2093
Jerry A. Schneider
Jess G. Thoene
William A. Gahl
P304
P3181
P356
10.1056/NEJMRA020552
P407
P577
2002-07-11T00:00:00Z