Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish Republic

Archives of Disease in Childhood

Volumn 94, Issue 1, 2009, Pages 52-54

  Murphy, A M ^a   Lambert, D ^a   Treacy, E P ^a   O'Meara, A ^b   Lynch, S A ^b  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CLINICAL ARTICLE; ETHNICITY; FEMALE; GENE FREQUENCY; GENOTYPE; HUMAN; HURLER SYNDROME; INCIDENCE; IRELAND; MALE; MEDICAL RECORD REVIEW; MORBIDITY; MORTALITY; MUCOPOLYSACCHARIDOSIS; NEWBORN SCREENING; PREVALENCE; PRIORITY JOURNAL; SCHEIE SYNDROME; TIME SERIES ANALYSIS;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IDURONIDASE; INCIDENCE; INFANT; INFANT, NEWBORN; IRELAND; MALE; MUCOPOLYSACCHARIDOSIS I; NEONATAL SCREENING; PHENOTYPE; PREVALENCE; REGISTRIES; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; TRANSIENTS AND MIGRANTS;

EID: 58349094118     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2007.135772     Document Type: Article

References (7)

1. Boelens JJ. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis 2006; 29:413-20.
2. Wraith JE. Limitations of enzyme replacement therapy: Current and future. J Inherit Met Dis 2006; 29:442-7.
3. Nelson J. Incidence of the mucopolysaccharridosis in Northern Ireland. Hum Genet 1997; 101:355-8.
4. Central Statistic Office Ireland. www.cso.ie (accessed 17 July 2008).
5. UK Statistic Authority, www.statistics.gov.uk (accessed 17 July 2008).
6. Murphy M, McHugh B, Tighe O, et al. Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. Eur J Hum Genet 1999; 7:549-54.
7. Greenberg CR, Prasad AN, Dilling LA, et al. Outcome of the first 3-years of a DNA- based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada. Mol Genet Metab 2002; 75:70-8.