155 related articles for article (PubMed ID: 31386236)
1. Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.
Taghikhani M; Khatami S; Abdi M; Hakhamaneshi MS; Alaei MR; Zamanfar D; Vakili R
J Clin Lab Anal; 2019 Oct; 33(8):e22963. PubMed ID: 31386236
[TBL] [Abstract][Full Text] [Related]
2. Mutation Analysis of the
Kamranjam M; Alaei M
Genet Test Mol Biomarkers; 2019 Aug; 23(8):515-522. PubMed ID: 31298590
[No Abstract] [Full Text] [Related]
3. Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
Kwak MJ; Huh R; Kim J; Park HD; Cho SY; Jin DK
BMC Med Genet; 2016 Aug; 17(1):58. PubMed ID: 27520059
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I.
Li Y; Tang X; Meng Y; Luo G; Yu X
J Genet; 2019 Sep; 98():. PubMed ID: 31544795
[TBL] [Abstract][Full Text] [Related]
6. A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.
Bremer S; Ohlsson A; Brodtkorb E; Rootwelt H; Rootwelt T; Woldseth B; Mørkrid L
Mol Genet Metab; 2011 Nov; 104(3):289-94. PubMed ID: 21831683
[TBL] [Abstract][Full Text] [Related]
7. Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
Chkioua L; Khedhiri S; Turkia HB; Tcheng R; Froissart R; Chahed H; Ferchichi S; Ben Dridi MF; Vianey-Saban C; Laradi S; Miled A
Diagn Pathol; 2011 Jun; 6():47. PubMed ID: 21639919
[TBL] [Abstract][Full Text] [Related]
8. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
Yogalingam G; Guo XH; Muller VJ; Brooks DA; Clements PR; Kakkis ED; Hopwood JJ
Hum Mutat; 2004 Sep; 24(3):199-207. PubMed ID: 15300847
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].
Wang XN; Wei M; Shi HP; Qiu ZQ; Yao FX; Meng Y; Zhang WM
Zhonghua Er Ke Za Zhi; 2011 Apr; 49(4):306-10. PubMed ID: 21624210
[TBL] [Abstract][Full Text] [Related]
11. Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.
Amr K; Katoury A; Abdel-Hamid M; Bassiouni R; Ibrahim M; Fateen E
Genet Test Mol Biomarkers; 2009 Dec; 13(6):761-4. PubMed ID: 19839758
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.
Laradi S; Tukel T; Erazo M; Shabbeer J; Chkioua L; Khedhiri S; Ferchichi S; Chaabouni M; Miled A; Desnick RJ
J Inherit Metab Dis; 2005; 28(6):1019-26. PubMed ID: 16435195
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F; Filocamo M; Casati G; Mort M; Rosano C; Tylki-Szymanska A; Tüysüz B; Gabrielli O; Grossi S; Scarpa M; Parenti G; Antuzzi D; Dalmau J; Di Rocco M; Dionisi Vici C; Okur I; Rosell J; Rovelli A; Furlan F; Rigoldi M; Biondi A; Cooper DN; Parini R
Hum Mutat; 2011 Jun; 32(6):E2189-210. PubMed ID: 21394825
[TBL] [Abstract][Full Text] [Related]
16. A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.
Prommajan K; Ausavarat S; Srichomthong C; Puangsricharern V; Suphapeetiporn K; Shotelersuk V
Mol Vis; 2011 Feb; 17():456-60. PubMed ID: 21364962
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
Chkioua L; Khedhiri S; Kassab A; Bibi A; Ferchichi S; Froissart R; Vianey-Saban C; Laradi S; Miled A
Diagn Pathol; 2011 Apr; 6():39. PubMed ID: 21521498
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]