BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 36299251)

  • 1. MPS VII - Extending the classical phenotype.
    Oldham A; Oxborrow NJ; Woolfson P; Jenkins P; Gadepalli C; Ashworth J; Saxena A; Rothera M; Hendriksz CJ; Tol G; Jovanovic A
    Mol Genet Metab Rep; 2022 Dec; 33():100922. PubMed ID: 36299251
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.
    Kantaputra PN; Smith LJ; Casal ML; Kuptanon C; Chang YC; Nampoothiri S; Paiyarom A; Veerasakulwong T; Trachoo O; Ketudat Cairns JR; Chinadet W; Tanpaiboon P
    Am J Med Genet A; 2019 Mar; 179(3):486-493. PubMed ID: 30653816
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
    Tomatsu S; Montaño AM; Dung VC; Grubb JH; Sly WS
    Hum Mutat; 2009 Apr; 30(4):511-9. PubMed ID: 19224584
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
    Giugliani R; Barth AL; Dumas MRC; da Silva Franco JF; de Rosso Giuliani L; Grangeiro CHP; Horovitz DDG; Kim CA; de Araújo Leão EKE; de Medeiros PFV; Miguel DSCG; Moreira MESA; Dos Santos HMGP; da Silva LCS; da Silva LR; de Souza IN; Nalin T; Garcia D
    Orphanet J Rare Dis; 2021 May; 16(1):238. PubMed ID: 34022924
    [TBL] [Abstract][Full Text] [Related]  

  • 5. First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient.
    Fox JE; Volpe L; Bullaro J; Kakkis ED; Sly WS
    Mol Genet Metab; 2015 Feb; 114(2):203-8. PubMed ID: 25468648
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature.
    Lee CL; Chuang CK; Hsu CH; Chiu HC; Tu RY; Lo YT; Chang YH; Lin HY; Lin SP
    J Formos Med Assoc; 2022 Mar; 121(3):712-717. PubMed ID: 34420841
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
    Lau HA; Viskochil D; Tanpaiboon P; Lopez AG; Martins E; Taylor J; Malkus B; Zhang L; Jurecka A; Marsden D
    Mol Genet Metab; 2022 May; 136(1):28-37. PubMed ID: 35331634
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ocular and electrophysiological findings in a patient with Sly syndrome.
    Flaherty M; Geering K; Crofts S; Grigg J
    Ophthalmic Genet; 2017; 38(4):376-379. PubMed ID: 27648682
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII.
    Ray J; Scarpino V; Laing C; Haskins ME
    J Hered; 1999; 90(1):119-23. PubMed ID: 9987917
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
    Giugliani R; Gonzalez-Meneses A; Scarpa M; Burton B; Wang R; Martins E; Oussoren E; Hennermann JB; Chabrol B; Grant CL; Sun A; Durand C; Hetzer J; Malkus B; Marsden D; Merritt Ii JL
    Orphanet J Rare Dis; 2024 May; 19(1):189. PubMed ID: 38715031
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A rare late progression form of Sly syndrome mucopolysaccharidosis.
    Guffon N; Froissart R; Fouilhoux A
    JIMD Rep; 2019 Sep; 49(1):1-6. PubMed ID: 31497474
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mucopolysaccharidosis VI.
    Valayannopoulos V; Nicely H; Harmatz P; Turbeville S
    Orphanet J Rare Dis; 2010 Apr; 5():5. PubMed ID: 20385007
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical response to persistent, low-level beta-glucuronidase expression in the murine model of mucopolysaccharidosis type VII.
    Donsante A; Levy B; Vogler C; Sands MS
    J Inherit Metab Dis; 2007 Apr; 30(2):227-38. PubMed ID: 17308887
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in
    Mosallanejad A; Alaei M; Ghaffari SR; Rafati M; Saneifard H
    Iran J Child Neurol; 2020; 14(2):101-106. PubMed ID: 32256629
    [No Abstract]   [Full Text] [Related]  

  • 15. Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.
    Su X; Zhao X; Yin X; Liu L; Huang Y; Zeng C; Li X; Zhang W
    Eur J Med Genet; 2024 Apr; 68():104933. PubMed ID: 38442846
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).
    Young RD; Liskova P; Pinali C; Palka BP; Palos M; Jirsova K; Hrdlickova E; Tesarova M; Elleder M; Zeman J; Meek KM; Knupp C; Quantock AJ
    Invest Ophthalmol Vis Sci; 2011 Aug; 52(9):6720-8. PubMed ID: 21743015
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Effect of neonatal gene therapy on lumbar spine disease in mucopolysaccharidosis VII dogs.
    Smith LJ; Martin JT; O'Donnell P; Wang P; Elliott DM; Haskins ME; Ponder KP
    Mol Genet Metab; 2012 Sep; 107(1-2):145-52. PubMed ID: 22510705
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Differences in MPS I and MPS II Disease Manifestations.
    Hampe CS; Yund BD; Orchard PJ; Lund TC; Wesley J; McIvor RS
    Int J Mol Sci; 2021 Jul; 22(15):. PubMed ID: 34360653
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
    Furlan F; Rovelli A; Rigoldi M; Filocamo M; Tappino B; Friday D; Gasperini S; Mariani S; Izzi C; Bondioni MP; Gellera C; Venerando A; Villa N; Del Carmen Rodriguez Perez M; Pavan F; Biondi A; Parini R
    Ital J Pediatr; 2018 Nov; 44(Suppl 2):128. PubMed ID: 30442200
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
    Kubaski F; Brusius-Facchin AC; Mason RW; Patel P; Burin MG; Michelin-Tirelli K; Kessler RG; Bender F; Leistner-Segal S; Moreno CA; Cavalcanti DP; Giugliani R; Tomatsu S
    Prenat Diagn; 2017 May; 37(5):435-439. PubMed ID: 28207930
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.