Mucopolysaccharidosis type I - Clinical and genetic characteristics of Romanian patients

1. The mucopolysaccharidoses. The metabolic and molecular bases of inherited disease; [Internet]. 2001.Search in Google Scholar

2. D’Aco K, Underhill L, Rangachari L, Arn P, Cox GF, Giugliani R, et al. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr. 2012;171(6):911-9.10.1007/s00431-011-1644-xSearch in Google Scholar

3. Scott HS, Guo X-H, Hopwood JJ, Morris CP. Structure and sequence of the human α-L-iduronidase gene. Genomics. 1992;13(4):1311-3.10.1016/0888-7543(92)90053-USearch in Google Scholar

4. Taylor J, Gibson G, Brooks D, Hopwood J. α-l-Iduronidase in normal and mucopolysaccharidosis-type-I human skin fibroblasts. Bioch J. 1991;274 (Pt 1):263-8.10.1042/bj2740263Search in Google Scholar

5. Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hop-wood JJ. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat. 1995;6(4):288-302.10.1002/humu.1380060403Search in Google Scholar

6. Brooks D. The immunochemical analysis of enzyme from mucopolysaccharidoses patients. JIMD. 1993;16(1):3-15.10.1007/BF00711309Search in Google Scholar

7. Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP. α-L-Iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Hum Mutat. 1992;1(4):333-9.10.1002/humu.1380010412Search in Google Scholar

8. Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, et al. 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. Hum Mutat. 2011;32(6):E2189-210.10.1002/humu.21479Search in Google Scholar

9. Clarke LA, Nelson PV, Warrington CL, Morris CP, Hopwood JJ, Scott HS. Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. Hum Mutat. 1994;3(3):275-82.10.1002/humu.1380030316Search in Google Scholar

10. Jurca C, Bembea M, Pallag A, Muresan M, Szilagyi A, Balmos A, et al. Pharmacotherapeutical considerations in the treatment and management of neonatal hyperammonaemia. Farmacia. 2018;66(2):216-22.Search in Google Scholar

11. Patlas M, Hadas-Halpern I, Abrahamov A, Zimran A, Elstein D. Repeat abdominal ultrasound evaluation of 100 patients with type I Gaucher disease treated with enzyme replacement therapy for up to 7 years. Hematol J. 2002;3(1):17-20.10.1038/sj.thj.6200152Search in Google Scholar

12. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002;113(2):112-9.10.1016/S0002-9343(02)01150-6Search in Google Scholar

13. Wang D, Shukla C, Liu X, Schoeb TR, Clarke LA, Bed-well DM, et al. Characterization of an MPS IH knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation. Mol Genet Metab. 2010;99(1):62-71.10.1016/j.ymgme.2009.08.002279504019751987Search in Google Scholar

14. Taghikhani M, Khatami S, Abdi M, Hakhamaneshi MS, Alaei MR, Zamanfar.D J. Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I. Clin Lab Anal. 2019;00:e2296310.1002/jcla.22963680531931386236Search in Google Scholar

15. Zahoor MY, Cheema HA, Ijaz S, Anjum MN, Ramzan K, Bhinder MA. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1. J Pediatr Endocrinol Metab. 2019;32(11):1221-1227.10.1515/jpem-2019-018831473686Search in Google Scholar

16. Clarke LA, Giugliani R, Guffon N, Jones SA, Keenan HA, Munoz-Rojas MV et al. Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. Clin Genet. 2019;96(4):281-289.10.1111/cge.13583685215131194252Search in Google Scholar

17. Zanetti A, D’Avanzo F, Rigon L, Rampazzo A, Concolino D, Barone R, et al. Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. Eur J Pediatr. 2019;178(5):739-753.10.1007/s00431-019-03341-8645979130809705Search in Google Scholar

18. Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, et al. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet. 2001;109(5):503-11.10.1007/s00439010060611735025Search in Google Scholar

19. Pollard LM, Jones JR, Wood TC. Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. JIMD. 2013;36(2):179-87.10.1007/s10545-012-9533-722976768Search in Google Scholar

20. Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, et al. Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet. 1994;3(6):861-6.10.1093/hmg/3.6.8617951228Search in Google Scholar

21. Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu AS, et al. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Clin Genet. 2016;90(6):496-508.10.1111/cge.1279527146977Search in Google Scholar

22. Terlato NJ, Cox GF. Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype? A comprehensive review of the literature. Genet Med. 2003;5(4):286-94.10.1097/01.GIM.0000078027.83236.4912865757Search in Google Scholar

23. Yogalingam G, Guo XH, Muller V, Brooks DA, Clements P, Kakkis E, et al. Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum Mutat. 2004;24(3):199-207.10.1002/humu.20081Search in Google Scholar

24. Gatti R, DiNatale P, Villani G, Filocamo M, Muller V, Guo X-H, et al. Mutations among Italian mucopolysaccharidosis type I patients. Journal of inherited metabolic disease. 1997;20(6):803-6.10.1023/A:1005323918923Search in Google Scholar

25. Gort L, Chabás A, Coll MJ. Analysis of five mutations in 20 mucopolysaccharidosis type I patients: high prevalence of the W402X mutation. Hum Mutat. 1998;11(4):332-3.10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU16>3.0.CO;2-PSearch in Google Scholar

26. Matte U, Yogalingam G, Brooks D, Leistner S, Schwartz I, Lima L, et al. Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Mol Genet Metab. 2003;78(1):37-43.10.1016/S1096-7192(02)00200-7Search in Google Scholar

27. Li P, Wood T, Thompson JN. Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene. Genet Med. 2002;4(6):420.10.1097/00125817-200211000-00004Search in Google Scholar