189 related articles for article (PubMed ID: 31298590)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
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. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
Zhou YA; Li P; Zhang Y; Xiong Q; Li C; Zhao Z; Wang Y; Xiao H
Mol Genet Genomic Med; 2020 Jan; 8(1):e1058. PubMed ID: 31758674
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications.
Peña-Gomar I; Jiménez-Mariscal JL; Cerón M; Rosas-Trigueros J; Reyes-López CA
Protein J; 2021 Feb; 40(1):68-77. PubMed ID: 33389473
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
