A clinical study of 77 patients with mucopolysaccharidosis type II

Acta Paediatrica, International Journal of Paediatrics

Volumn 96, Issue SUPPL. 455, 2007, Pages 63-70

  Schwartz, Ida V D ^a,b   Ribeiro, Márcia G ^c   Mota, João G ^d   Toralles, Maria Betânia P ^d   Correia, Patrícia ^e   Horovitz, Dafne ^e   Santos, Emerson S ^f   Monlleo, Isabella L ^f,g   Fett Conte, Agnes C ^h   Sobrinho, Ruy P Oliveira ⁱ   Norato, Denise Y J ⁱ   Paula, Anna Carolina ^j   Kim, Chong A ^j   Duarte, Andréa R ^k   Boy, Raquel ^l   Valadares, Eugênia ^m   De Michelena, Maria ⁿ   Mabe, Paulina ^o   Martinhago, Cyro D ^j   Pina Neto, João M ^j   Kok, Fernando ^j   Leistner Segal, Sandra ^b   Burin, Maira G ^b   Giugliani, Roberto ^a,b   more..

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^d FEDERAL UNIVERSITY OF BAHIA   (Brazil)

^e INSTITUTO OSWALDO CRUZ   (Brazil)

^f UNIVERSIDADE ESTADUAL DE CIÊNCIAS DA SAÚDE DE ALAGOAS   (Brazil)

^g FEDERAL UNIVERSITY OF ALAGOAS   (Brazil)

^h FACULDADE DE MEDICINA DE SÃO JOSÉ DO RIO PRETO   (Brazil)

ⁱ UNIVERSITY OF CAMPINAS   (Brazil)

^j UNIVERSITY OF SÃO PAULO   (Brazil)

^k INSTITUTO DE MEDICINA INTEGRAL PROF FERNANDO FIGUEIRA   (Brazil)

^l STATE UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^m FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

ⁿ UNIVERSIDAD PERUANA CAYETANO HEREDIA   (Peru)

^o Pediatra Reumatólogo Unidad Inmuno Reumatología Hospital Dr Exequiel González Cortés   (Chile)

more..

Author keywords

Clinical findings; Hunter syndrome; Lysosomal storage diseases; Mucopolysaccharidosis type II; South America

Indexed keywords

GLYCOSAMINOGLYCAN;

ACADEMIC ACHIEVEMENT; ADOLESCENT; ADULT; BEHAVIOR DISORDER; BRAZIL; CHILD; CLINICAL FEATURE; CONFERENCE PAPER; DEGENERATIVE DISEASE; DEVELOPMENTAL DISORDER; DIAGNOSTIC VALUE; ECG ABNORMALITY; FEMALE; HUMAN; HUNTER SYNDROME; INTERVIEW; LANGUAGE DEVELOPMENT; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MELANOCYTOSIS; MENTAL DEFICIENCY; MITRAL VALVE REGURGITATION; NEUROLOGIC DISEASE; ONSET AGE; PRIORITY JOURNAL; REFRACTION ERROR; SEIZURE; SKIN MANIFESTATION; URINARY EXCRETION;

EID: 33947590635     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2007.00212.x     Document Type: Conference Paper

References (30)

1. Neufeld E, Muenzer J. The mucopolysaccharidoses. In: Schriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001: 3421-52.
2. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000; 105: e10.
3. Young ID, Harper PS. Incidence of Hunter's syndrome. Hum Genet 1982; 60: 391-2.
4. Machill G, Barbujani G, Danieli GA, Herrmann FH. Segregation and sporadic cases in families with Hunter's syndrome. J Med Genet 1991; 28: 398-401.
5. Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 1997; 101: 355-8.
6. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105: 151-6.
7. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-54.
8. Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A 2003; 123: 310-13.
9. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005; 28: 1011-17.
10. Schaap T, Bach G. Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"? Hum Genet 1980; 56: 221-3.
11. Young ID, Harper PS, Archer IM, Newcombe RG. A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity. J Med Genet 1982; 19: 401-7.
12. Young ID, Harper PS, Newcombe RG, Archer IM. A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms. J Med Genet 1982; 19: 408-11.
13. Young ID, Harper PS. Mild form of Hunter's syndrome: clinical delineation based on 31 cases. Arch Dis Child 1982; 57: 828-36.
14. Young ID, Harper PS. The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev Med Child Neurol 1983; 25: 481-9.
15. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006; 8: 465-73.
16. Hamill PV, Drizd TA, Johnson CL, Reed RB, Roche AF, Moore WM. Physical growth: National Center for Health Statistics percentiles. Am J Clin Nutr 1979; 32: 607-29.
17. Nellhaus G. Head circumference from birth to eighteen years. Practical composite international and interracial graphs. Pediatrics 1968; 41: 106-14.
18. Nóbrega FJ. Antropometria, patologias e malformações congênitas do recém-nascido brasileiro e estudos de associação com algumas variáveis maternas. J Pediatr (Rio J) 1985; 59: S10-27.
19. Stevenson RE, Howell RR, McKusick VA, Suskind R, Hanson JW, Elliott DE, et al. The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features. Pediatrics 1976; 57: 111-22.
20. Carter CO. Genetics of common single malformations. Br Med Bull 1976; 32: 21-6.
21. Wippermann CF, Beck M, Schranz D, Huth R, Michel-Behnke I, Jüngst BK. Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur J Pediatr 1995; 154: 98-101.
22. Mohan UR, Hay AA, Cleary MA, Wraith JE, Patel RG. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr 2002; 91: 799-804.
23. Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Arch Dermatol 2003; 139: 916-20.
24. Sapadin AN, Friedman IS. Extensive Mongolian spots associated with Hunter syndrome. J Am Acad Dermatol 1998; 39: 1013-5.
25. Ochiai T, Ito K, Okada T, Chin M, Shichino H, Mugishima H. Significance of extensive Mongolian spots in Hunter's syndrome. Br J Dermatol 2003; 148: 1173-8.
26. Muenzer J. Mucopolysaccharidoses. Adv Pediatr 1986; 33: 269-302.
27. Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 1995; 72: 263-7.
28. Froissart R, Moreira da Silva I, Guffon N, Bozon D, Maire I. Mucopolysaccharidosis type II - genotype/phenotype aspects. Acta Paediatr 2002; 91 Suppl 439: 82-7.
29. Parkinson EJ, Muller V, Hopwood JJ, Brooks DA. Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients. Mol Genet Metab 2004; 81: 58-64.
30. Gallegos-Arreola MP, Machorro-Lazo MV, Flores-Martínez SE, Zúniga-González GM, Figuera LE, González-Noriega A, et al. Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses. Arch Med Res 2000; 31: 505-10.