The live-birth prevalence of mucopolysaccharidoses in Estonia

Genetic Testing and Molecular Biomarkers

Volumn 16, Issue 8, 2012, Pages 846-849

  Krabbi, Külliki ^a,b   Joost, Kairit ^c,d   Zordania, Riina ^c   Talvik, Inga ^d,e   Rein, Reet ^e   Huijmans, Jan G M ^f   Verheijen, Frans V ^f   Õunap, Katrin ^c,d  

^a TALLINN UNIVERSITY OF TECHNOLOGY   (Estonia)

^b Chemistry Laboratory of Central Laboratory of Health Board   (Estonia)

^c TARTU UNIVERSITY HOSPITAL   (Estonia)

^d UNIVERSITY OF TARTU   (Estonia)

^e TARTU UNIVERSITY HOSPITAL   (Estonia)

^f ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; ESTONIA; FEMALE; HUMAN; INCIDENCE; LIVE BIRTH; MALE; MUCOPOLYSACCHARIDOSIS; ONSET AGE; PRESCHOOL CHILD; RETROSPECTIVE STUDY;

ESTONIA; HUMANS; MALE; MUCOPOLYSACCHARIDOSES; PREVALENCE; RETROSPECTIVE STUDIES;

EID: 84865695796     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2011.0307     Document Type: Article

References (14)

1. Baehner F, Schmiedeskamp C, Krummenauer F, et al. (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011-1017.
2. de Jong JG, Wevers RA, Laarakkers C, et al. (1989) Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin Chem 35:1472-1477.
3. de Jong JG, Wevers RA, Liebrand-van Sambeek R. (1992) Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem 38:803-807.
4. Lin HY, Lin SP, Chuang CK, et al. (2009) Incidence of the mucopolysaccharidoses in Taiwan: 1984-2004. Am J Med Genet A 149 A: 960-964.
5. Malm G, Lund AM, Mansson JE, et al. (2008) Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr 97:1577-81.
6. Nelson J. (1997) Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101:355-358.
7. Neufeld EF, Muenzer J. (1995) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, pp 2465-2494.
8. Õunap K, Joost K, Temberg T, et al. (2010) Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients. J Inherit Metab Dis 33:175-176.
9. Ounap K, Lillevali H, Metspalu A, et al. (1998) Development of the phenylketonuria screening programme in Estonia. J Med Screen 5:22-23.
10. Pinto R, Caseiro C, Lemos M, et al. (2004) Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12:87-92.
11. Poorthuis BJ, Wevers RA, Kleijer WJ, et al. (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151-156.
12. Poupetová H, Ledvinova J, Berna L, et al. (2010) The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 33:387-396.
13. Schaap T, Bach G. (1980) Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"? Hum Genet 56:221-223.
14. Whiteman P, Henderson H. (1977) A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of Hurler and Sanfilippo diseases. Clin Chim Acta 79:99-105.