253 related articles for article (PubMed ID: 9832037)
1. 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]
2. Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
Weber B; Guo XH; Kleijer WJ; van de Kamp JJ; Poorthuis BJ; Hopwood JJ
Eur J Hum Genet; 1999 Jan; 7(1):34-44. PubMed ID: 10094189
[TBL] [Abstract][Full Text] [Related]
3. Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
Bunge S; Knigge A; Steglich C; Kleijer WJ; van Diggelen OP; Beck M; Gal A
J Med Genet; 1999 Jan; 36(1):28-31. PubMed ID: 9950362
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Genotype-phenotype correspondence in Sanfilippo syndrome type B.
Zhao HG; Aronovich EL; Whitley CB
Am J Hum Genet; 1998 Jan; 62(1):53-63. PubMed ID: 9443875
[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. [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]
8. Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
Mangas M; Nogueira C; Prata MJ; Lacerda L; Coll MJ; Soares G; Ribeiro G; Amaral O; Ferreira C; Alves C; Coutinho MF; Alves S
Clin Genet; 2008 Mar; 73(3):251-6. PubMed ID: 18218046
[TBL] [Abstract][Full Text] [Related]
9. Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).
Champion KJ; Basehore MJ; Wood T; Destrée A; Vannuffel P; Maystadt I
Mol Genet Metab; 2010 May; 100(1):51-6. PubMed ID: 20138557
[TBL] [Abstract][Full Text] [Related]
10. Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
Emre S; Terzioglu M; Tokatli A; Coskun T; Ozalp I; Weber B; Hopwood JJ
Hum Mutat; 2002 Feb; 19(2):184-5. PubMed ID: 11793481
[TBL] [Abstract][Full Text] [Related]
11. Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
Tessitore A; Villani GR; Di Domenico C; Filocamo M; Gatti R; Di Natale P
Hum Genet; 2000 Dec; 107(6):568-76. PubMed ID: 11153910
[TBL] [Abstract][Full Text] [Related]
12. Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient.
Yogalingam G; Weber B; Meehan J; Rogers J; Hopwood JJ
Biochim Biophys Acta; 2000 Nov; 1502(3):415-25. PubMed ID: 11068184
[TBL] [Abstract][Full Text] [Related]
13. NAGLU mutations underlying Sanfilippo syndrome type B.
Schmidtchen A; Greenberg D; Zhao HG; Li HH; Huang Y; Tieu P; Zhao HZ; Cheng S; Zhao Z; Whitley CB; Di Natale P; Neufeld EF
Am J Hum Genet; 1998 Jan; 62(1):64-9. PubMed ID: 9443878
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. The molecular basis of Sanfilippo syndrome type B.
Zhao HG; Li HH; Bach G; Schmidtchen A; Neufeld EF
Proc Natl Acad Sci U S A; 1996 Jun; 93(12):6101-5. PubMed ID: 8650226
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
Beesley CE; Jackson M; Young EP; Vellodi A; Winchester BG
J Inherit Metab Dis; 2005; 28(5):759-67. PubMed ID: 16151907
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]