BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

48 related articles for article (PubMed ID: 28836185)

  • 1. Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector.
    Rouse CJ; Hawkins K; Kabbej N; Dalugdug J; Kunta A; Kim MJ; Someya S; Herbst Z; Gelb M; Dinelli I; Butterworth E; Falk DJ; Rosenkrantz E; Elmohd H; Khaledi H; Mowafy S; Ashby F; Heldermon CD
    Hum Mol Genet; 2023 Jan; 32(3):417-430. PubMed ID: 35997776
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).
    Hu H; Hübner C; Lukacs Z; Musante L; Gill E; Wienker TF; Ropers HH; Knierim E; Schuelke M
    Eur J Hum Genet; 2017 Feb; 25(2):253-256. PubMed ID: 27827379
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B).
    Hettiarachchi D; Nethikumara N; Pathirana BAPS; Weththasigha K; Dissanayake WDN; Dissanayake VHW
    Clin Case Rep; 2018 Jun; 6(6):1051-1054. PubMed ID: 29881562
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
    Yogalingam G; Hopwood JJ
    Hum Mutat; 2001 Oct; 18(4):264-81. PubMed ID: 11668611
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders.
    Kaczor-Kamińska M; Kamiński K; Wróbel M
    Antioxidants (Basel); 2022 Mar; 11(4):. PubMed ID: 35453363
    [TBL] [Abstract][Full Text] [Related]  

  • 6. High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.
    Meijer OLM; van den Biggelaar P; Ofman R; Wijburg FA; van Vlies N
    JIMD Rep; 2018; 39():97-106. PubMed ID: 28836185
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.
    Meijer OLM; Te Brinke H; Ofman R; IJlst L; Wijburg FA; van Vlies N
    Mol Genet Metab; 2017 Sep; 122(1-2):100-106. PubMed ID: 28751108
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
    Vallejo-Diez S; Fleischer A; Martín-Fernández JM; Sánchez-Gilabert A; Bachiller D
    Stem Cell Res; 2018 Dec; 33():180-184. PubMed ID: 30408744
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].
    Zhang WM; Shi HP; Meng Y; Li BT; Qiu ZQ; Liu JT
    Zhonghua Er Ke Za Zhi; 2008 Jun; 46(6):407-10. PubMed ID: 19099774
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Insulin Receptor Antibody-α-N-Acetylglucosaminidase Fusion Protein Penetrates the Primate Blood-Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type B Fibroblasts.
    Boado RJ; Lu JZ; Hui EK; Lin H; Pardridge WM
    Mol Pharm; 2016 Apr; 13(4):1385-92. PubMed ID: 26910785
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
    Hughes DA; Nicholls K; Shankar SP; Sunder-Plassmann G; Koeller D; Nedd K; Vockley G; Hamazaki T; Lachmann R; Ohashi T; Olivotto I; Sakai N; Deegan P; Dimmock D; Eyskens F; Germain DP; Goker-Alpan O; Hachulla E; Jovanovic A; Lourenco CM; Narita I; Thomas M; Wilcox WR; Bichet DG; Schiffmann R; Ludington E; Viereck C; Kirk J; Yu J; Johnson F; Boudes P; Benjamin ER; Lockhart DJ; Barlow C; Skuban N; Castelli JP; Barth J; Feldt-Rasmussen U
    J Med Genet; 2017 Apr; 54(4):288-296. PubMed ID: 27834756
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
    Germain DP; Hughes DA; Nicholls K; Bichet DG; Giugliani R; Wilcox WR; Feliciani C; Shankar SP; Ezgu F; Amartino H; Bratkovic D; Feldt-Rasmussen U; Nedd K; Sharaf El Din U; Lourenco CM; Banikazemi M; Charrow J; Dasouki M; Finegold D; Giraldo P; Goker-Alpan O; Longo N; Scott CR; Torra R; Tuffaha A; Jovanovic A; Waldek S; Packman S; Ludington E; Viereck C; Kirk J; Yu J; Benjamin ER; Johnson F; Lockhart DJ; Skuban N; Castelli J; Barth J; Barlow C; Schiffmann R
    N Engl J Med; 2016 Aug; 375(6):545-55. PubMed ID: 27509102
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
    Meijer OLM; Welling L; Valstar MJ; Hoefsloot LH; Brüggenwirth HT; van der Ploeg AT; Ruijter GJG; Wagemans T; Wijburg FA; van Vlies N
    J Inherit Metab Dis; 2016 May; 39(3):437-445. PubMed ID: 26907177
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.
    Parenti G; Andria G; Valenzano KJ
    Mol Ther; 2015 Jul; 23(7):1138-1148. PubMed ID: 25881001
    [TBL] [Abstract][Full Text] [Related]  

  • 15.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 16.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 17.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 18.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

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

    [Next]    [New Search]
    of 3.