160 related articles for article (PubMed ID: 23667853)
1. A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.
Kim YE; Park HD; Jang MA; Ki CS; Lee SY; Kim JW; Cho SY; Jin DK
Ann Lab Med; 2013 May; 33(3):221-4. PubMed ID: 23667853
[TBL] [Abstract][Full Text] [Related]
2. Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.
Tang J; Pan J; Guo Y; Ai Y; Jiang W; Du M; Fang Q
Clin Chim Acta; 2013 Apr; 419():33-8. PubMed ID: 23380547
[TBL] [Abstract][Full Text] [Related]
3. The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.
Huh HJ; Seo JY; Cho SY; Ki CS; Lee SY; Kim JW; Park HD; Jin DK
Ann Lab Med; 2013 Jan; 33(1):75-9. PubMed ID: 23301227
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.
Pierzynowska K; Mański A; Limanówka M; Wierzba J; Gaffke L; Anikiej P; Węgrzyn G
Mol Genet Genomic Med; 2020 Sep; 8(9):e1356. PubMed ID: 32578945
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mucopolysaccharidosis type III (subtype IIIB) diagnosis as a spectrum disorder: A case report from Kosovo.
Spahiu L; Behluli E; Hadziselimovic R; Liehr T; Temaj G
Folia Med (Plovdiv); 2023 Feb; 65(1):161-165. PubMed ID: 36855989
[TBL] [Abstract][Full Text] [Related]
8. Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
Li J; Xie H; Jiang Y
BMC Med Genet; 2018 Apr; 19(1):51. PubMed ID: 29606097
[TBL] [Abstract][Full Text] [Related]
9. Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB.
Zheng Y; Ryazantsev S; Ohmi K; Zhao HZ; Rozengurt N; Kohn DB; Neufeld EF
Mol Genet Metab; 2004 Aug; 82(4):286-95. PubMed ID: 15308126
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Beesley CE; Young EP; Vellodi A; Winchester BG
J Med Genet; 1998 Nov; 35(11):910-4. PubMed ID: 9832037
[TBL] [Abstract][Full Text] [Related]
12. Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.
Zeng Q; Fan Y; Wang L; Huang Z; Gu X; Yu Y
J Pediatr Endocrinol Metab; 2017 Apr; 30(4):463-469. PubMed ID: 28306536
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation.
Değerliyurt A; Yayıcı Köken Ö; Teker ND; Aktaş D
Neurocase; 2021 Aug; 27(4):366-371. PubMed ID: 34396902
[TBL] [Abstract][Full Text] [Related]
16. Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B.
Aronovich EL; Johnston JM; Wang P; Giger U; Whitley CB
Genomics; 2001 Jun; 74(3):299-305. PubMed ID: 11414757
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.
Chinen Y; Tohma T; Izumikawa Y; Uehara H; Ohta T
J Hum Genet; 2005; 50(7):357-359. PubMed ID: 15933803
[TBL] [Abstract][Full Text] [Related]
19. Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells.
Huang W; Cheng YS; Yang S; Swaroop M; Xu M; Huang W; Zheng W
Exp Cell Res; 2021 Oct; 407(1):112785. PubMed ID: 34411609
[TBL] [Abstract][Full Text] [Related]
20. Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy.
Holley RJ; Ellison SM; Fil D; O'Leary C; McDermott J; Senthivel N; Langford-Smith AWW; Wilkinson FL; D'Souza Z; Parker H; Liao A; Rowlston S; Gleitz HFE; Kan SH; Dickson PI; Bigger BW
Brain; 2018 Jan; 141(1):99-116. PubMed ID: 29186350
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]