191 related articles for article (PubMed ID: 35141277)
1. Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
Voskoboeva EY; Bookina TM; Semyachkina AN; Mikhaylova SV; Vashakmadze ND; Baydakova GV; Zakharova EY; Kutsev SI
Front Mol Biosci; 2021; 8():783644. PubMed ID: 35141277
[TBL] [Abstract][Full Text] [Related]
2. Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.
Voskoboeva E; Semyachkina A; Miklyaev O; Gamzatova A; Mikhaylova S; Vashakmadze N; Baydakova G; Omzar O; Pichkur N; Zakharova E; Kutsev S
Front Mol Biosci; 2021; 8():780184. PubMed ID: 35118118
[TBL] [Abstract][Full Text] [Related]
3. p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Ngiwsara L; Ketudat-Cairns JR; Sawangareetrakul P; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Tim-Aroon T; Wattanasirichaigoon D; Svasti J
Ann Hum Genet; 2018 May; 82(3):150-157. PubMed ID: 29282708
[TBL] [Abstract][Full Text] [Related]
4. Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
Chkioua L; Boudabous H; Jaballi I; Grissa O; Turkia HB; Tebib N; Laradi S
Diagn Pathol; 2018 May; 13(1):35. PubMed ID: 29843745
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.
Voskoboeva EY; Krasnopolskaya XD; Mirenburg TV; Weber B; Hopwood JJ
Mol Genet Metab; 1998 Oct; 65(2):174-80. PubMed ID: 9787109
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.
Sun L; Li C; Song X; Zheng N; Zhang H; Dong G
Genet Mol Biol; 2011 Apr; 34(2):195-200. PubMed ID: 21734815
[TBL] [Abstract][Full Text] [Related]
9. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
Zahoor MY; Cheema HA; Ijaz S; Anjum MN; Ramzan K; Bhinder MA
J Pediatr Endocrinol Metab; 2019 Nov; 32(11):1221-1227. PubMed ID: 31473686
[TBL] [Abstract][Full Text] [Related]
10. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Scott HS; Bunge S; Gal A; Clarke LA; Morris CP; Hopwood JJ
Hum Mutat; 1995; 6(4):288-302. PubMed ID: 8680403
[TBL] [Abstract][Full Text] [Related]
11. IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Ghosh A; Mercer J; Mackinnon S; Yue WW; Church H; Beesley CE; Broomfield A; Jones SA; Tylee K
Hum Mutat; 2017 Nov; 38(11):1555-1568. PubMed ID: 28752568
[TBL] [Abstract][Full Text] [Related]
12. Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.
Lee-Chen GJ; Lin SP; Chen IS; Chang JH; Yang CW; Chin YW
J Formos Med Assoc; 2002 Jun; 101(6):425-8. PubMed ID: 12189649
[TBL] [Abstract][Full Text] [Related]
13. Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
Lee-Chen GJ; Lin SP; Tang YF; Chin YW
Clin Genet; 1999 Jul; 56(1):66-70. PubMed ID: 10466419
[TBL] [Abstract][Full Text] [Related]
14. Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.
Yamagishi A; Tomatsu S; Fukuda S; Uchiyama A; Shimozawa N; Suzuki Y; Kondo N; Sukegawa K; Orii T
Hum Mutat; 1996; 7(1):23-9. PubMed ID: 8664897
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
Ahmed A; Whitley CB; Cooksley R; Rudser K; Cagle S; Ali N; Delaney K; Yund B; Shapiro E
Mol Genet Metab; 2014 Feb; 111(2):123-7. PubMed ID: 24368159
[TBL] [Abstract][Full Text] [Related]
18. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Uttarilli A; Ranganath P; Matta D; Md Nurul Jain J; Prasad K; Babu AS; Girisha KM; Verma IC; Phadke SR; Mandal K; Puri RD; Aggarwal S; Danda S; Sankar VH; Kapoor S; Bhat M; Gowrishankar K; Hasan AQ; Nair M; Nampoothiri S; Dalal A
Clin Genet; 2016 Dec; 90(6):496-508. PubMed ID: 27146977
[TBL] [Abstract][Full Text] [Related]
19. Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.
Tebani A; Zanoutene-Cheriet L; Adjtoutah Z; Abily-Donval L; Brasse-Lagnel C; Laquerrière A; Marret S; Chalabi Benabdellah A; Bekri S
Int J Mol Sci; 2016 May; 17(5):. PubMed ID: 27196898
[TBL] [Abstract][Full Text] [Related]
20. Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Vazna A; Beesley C; Berna L; Stolnaja L; Myskova H; Bouckova M; Vlaskova H; Poupetova H; Zeman J; Magner M; Hlavata A; Winchester B; Hrebicek M; Dvorakova L
Am J Med Genet A; 2009 May; 149A(5):965-74. PubMed ID: 19396826
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]