These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 24077756)

  • 1. Progressive destructive bone changes in patients with cystinosis.
    Klusmann M; Van't Hoff W; Monsell F; Offiah AC
    Skeletal Radiol; 2013 Sep; ():. PubMed ID: 24077756
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Early oral cysteamine therapy for nephropathic cystinosis.
    Gahl WA
    Eur J Pediatr; 2003 Dec; 162 Suppl 1():S38-41. PubMed ID: 14610675
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.
    Papizh S; Serzhanova V; Filatova A; Skoblov M; Tabakov V; van den Heuvel L; Levtchenko E; Prikhodina L
    BMC Nephrol; 2019 Oct; 20(1):400. PubMed ID: 31672123
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease.
    Bäumner S; Weber LT
    Front Pediatr; 2018; 6():58. PubMed ID: 29594088
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group.
    Nat Genet; 1995 Jun; 10(2):246-8. PubMed ID: 7663525
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Nephropathic cystinosis: an update on genetic conditioning.
    Topaloglu R
    Pediatr Nephrol; 2021 Jun; 36(6):1347-1352. PubMed ID: 32564281
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria.
    Kanthila J; Dsa S; Bhat KG
    J Clin Diagn Res; 2015 Mar; 9(3):SD05-6. PubMed ID: 25954677
    [TBL] [Abstract][Full Text] [Related]  

  • 8. CTNS mutations in patients with cystinosis.
    Anikster Y; Shotelersuk V; Gahl WA
    Hum Mutat; 1999; 14(6):454-8. PubMed ID: 10571941
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.
    Sonies BC; Almajid P; Kleta R; Bernardini I; Gahl WA
    Medicine (Baltimore); 2005 May; 84(3):137-146. PubMed ID: 15879904
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cystinosis with Fanconi's syndrome. A case report.
    Adams BK; Naidoo PM
    S Afr Med J; 1978 May; 53(18):719-21. PubMed ID: 694607
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.
    Joyce E; Ho J; El-Gharbawy A; Salgado CM; Ranganathan S; Reyes-Múgica M
    Pediatr Dev Pathol; 2017; 20(1):72-75. PubMed ID: 28276300
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis.
    Krohn P; Rega LR; Harvent M; Festa BP; Taranta A; Luciani A; Dewulf J; Cremonesi A; Camassei FD; Hanson JVM; Gerth-Kahlert C; Emma F; Berquez M; Devuyst O
    Hum Mol Genet; 2022 Jul; 31(13):2262-2278. PubMed ID: 35137071
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Skeletal Consequences of Nephropathic Cystinosis.
    Florenzano P; Ferreira C; Nesterova G; Roberts MS; Tella SH; de Castro LF; Brown SM; Whitaker A; Pereira RC; Bulas D; Gafni RI; Salusky IB; Gahl WA; Collins MT
    J Bone Miner Res; 2018 Oct; 33(10):1870-1880. PubMed ID: 29905968
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.
    Al-Haggar M
    World J Nephrol; 2013 Nov; 2(4):94-102. PubMed ID: 24255892
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Slow progression of renal failure in a child with infantile cystinosis.
    Bitsori M; Vergadi E; Galanakis E
    CEN Case Rep; 2018 May; 7(1):153-157. PubMed ID: 29446030
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cystinosin-deficient rats recapitulate the phenotype of nephropathic cystinosis.
    Hollywood JA; Kallingappa PK; Cheung PY; Martis RM; Sreebhavan S; 'Atiola RD; Chatterjee A; Buckels EJ; Matthews BG; Lewis PM; Davidson AJ
    Am J Physiol Renal Physiol; 2022 Aug; 323(2):F156-F170. PubMed ID: 35695380
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation analysis of the
    Sadeghipour F; Basiratnia M; Derakhshan A; Fardaei M
    Hum Genome Var; 2017; 4():17038. PubMed ID: 28983406
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Nephropathic cystinosis in black children. Case reports.
    Sochett E; Pettifor JM; Milner L; Thomson PD; Berkowitz F
    S Afr Med J; 1984 Mar; 65(10):397-8. PubMed ID: 6701696
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.
    Ueda M; O'Brien K; Rosing DR; Ling A; Kleta R; McAreavey D; Bernardini I; Gahl WA
    Clin J Am Soc Nephrol; 2006 May; 1(3):555-62. PubMed ID: 17699259
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.