157 related articles for article (PubMed ID: 22114460)
1. Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report.
Tatapudi R; Gunashekhar M; Raju PS
Contemp Clin Dent; 2011 Jan; 2(1):66-8. PubMed ID: 22114460
[TBL] [Abstract][Full Text] [Related]
2. Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes.
Mueller OT; Shows TB; Opitz JM
Am J Med Genet; 1984 Jul; 18(3):547-56. PubMed ID: 6433708
[TBL] [Abstract][Full Text] [Related]
3. Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.
Jameson E; Jones S; Remmington T
Cochrane Database Syst Rev; 2016 Apr; 4():CD009354. PubMed ID: 27033167
[TBL] [Abstract][Full Text] [Related]
4. Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.
Jameson E; Jones S; Wraith JE
Cochrane Database Syst Rev; 2013 Nov; (11):CD009354. PubMed ID: 24257962
[TBL] [Abstract][Full Text] [Related]
5. Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I.
Jameson E; Jones S; Wraith JE
Cochrane Database Syst Rev; 2013 Sep; (9):CD009354. PubMed ID: 24085657
[TBL] [Abstract][Full Text] [Related]
6. Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
Tieu PT; Bach G; Matynia A; Hwang M; Neufeld EF
Hum Mutat; 1995; 6(1):55-9. PubMed ID: 7550232
[TBL] [Abstract][Full Text] [Related]
7. Mucopolysaccharidosis type I Hurler-Scheie syndrome: a case report.
Lamichhane S; Sapkota A; Sapkota S; Adhikari N; Aryal S; Adhikari P
Ann Med Surg (Lond); 2024 Jan; 86(1):588-593. PubMed ID: 38222696
[TBL] [Abstract][Full Text] [Related]
8. Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
Oussoren E; Keulemans J; van Diggelen OP; Oemardien LF; Timmermans RG; van der Ploeg AT; Ruijter GJ
Mol Genet Metab; 2013 Aug; 109(4):377-81. PubMed ID: 23786846
[TBL] [Abstract][Full Text] [Related]
9. Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters.
Anand R; Bhatia D; Yadav DS
Radiol Case Rep; 2012; 7(2):641. PubMed ID: 27326280
[TBL] [Abstract][Full Text] [Related]
10. Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
Scott HS; Litjens T; Nelson PV; Thompson PR; Brooks DA; Hopwood JJ; Morris CP
Am J Hum Genet; 1993 Nov; 53(5):973-86. PubMed ID: 8213840
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clarke LA; Giugliani R; Guffon N; Jones SA; Keenan HA; Munoz-Rojas MV; Okuyama T; Viskochil D; Whitley CB; Wijburg FA; Muenzer J
Clin Genet; 2019 Oct; 96(4):281-289. PubMed ID: 31194252
[TBL] [Abstract][Full Text] [Related]
12. 12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.
Gabrielli O; Clarke LA; Ficcadenti A; Santoro L; Zampini L; Volpi N; Coppa GV
BMC Med Genet; 2016 Mar; 17():19. PubMed ID: 26965916
[TBL] [Abstract][Full Text] [Related]
13. Hurler-Scheie syndrome in Niger: a case series.
Assadeck H; Toudou Daouda M; Bako H; Hassane Djibo F
J Med Case Rep; 2019 Apr; 13(1):102. PubMed ID: 31018863
[TBL] [Abstract][Full Text] [Related]
14. 18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I.
Pjetraj D; Santoro L; Sgattoni C; Padella L; Zampini L; Monachesi C; Gabrielli O; Catassi C
Am J Med Genet A; 2023 Feb; 191(2):564-569. PubMed ID: 36333985
[TBL] [Abstract][Full Text] [Related]
15. [Mucopolysaccharidosis I, Hurler syndrome: a case report].
Amorín M; Carlin A; Prötzel A
Arch Argent Pediatr; 2012 Oct; 110(5):e103-6. PubMed ID: 23070190
[TBL] [Abstract][Full Text] [Related]
16. Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).
Keith O; Scully C; Weidmann GM
Oral Surg Oral Med Oral Pathol; 1990 Jul; 70(1):70-4. PubMed ID: 2115154
[TBL] [Abstract][Full Text] [Related]
17. The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.
Hein LK; Hopwood JJ; Clements PR; Brooks DA
Biochim Biophys Acta; 2003 Oct; 1639(2):95-103. PubMed ID: 14559116
[TBL] [Abstract][Full Text] [Related]
18. Clinical features of Mexican patients with Mucopolysaccharidosis type I.
Alonzo-Rojo A; García-Ortiz JE; Ortiz-Aranda M; Gallegos-Arreola MP; Figuera-Villanueva LE
Genet Mol Res; 2017 Sep; 16(3):. PubMed ID: 28973713
[TBL] [Abstract][Full Text] [Related]
19. Mucopolysaccharidosis type I.
Wraith JE; Jones S
Pediatr Endocrinol Rev; 2014 Sep; 12 Suppl 1():102-6. PubMed ID: 25345091
[TBL] [Abstract][Full Text] [Related]
20. Laronidase treatment of mucopolysaccharidosis I.
Wraith EJ; Hopwood JJ; Fuller M; Meikle PJ; Brooks DA
BioDrugs; 2005; 19(1):1-7. PubMed ID: 15691212
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
