Prevalence of lysosomal storage diseases in Portugal

@article{Pinto2004PrevalenceOL,
  title={Prevalence of lysosomal storage diseases in Portugal},
  author={R. {\^A}mbar Pinto and Carla Caseiro and Manuela Lemos and L Caldas Lopes and Augusta Fontes and Helena Ribeiro and Eug{\'e}nia Pinto and Elisabete Magalh{\~a}es Silva and S{\'o}nia Rocha and Ana M Marc{\~a}o and Isaura Ribeiro and L{\'u}cia Lacerda and Gil R H Ribeiro and Olga Amaral and M. Clara S{\'a} Miranda},
  journal={European Journal of Human Genetics},
  year={2004},
  volume={12},
  pages={87-92}
}
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders individually considered as rare, and few data on its prevalence has been reported in the literature. The overall birth prevalence of the 29 different LSDs studied in the Portuguese population was calculated to be 25/100 000 live births, twice the prevalence previously described in Australia and in The Netherlands. The comparison of the prevalence profile of the LSDs presenting a prevalence higher than 0.5/100 000 in… CONTINUE READING
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Metachromatic leukodystrophy; in Scriver SR, Beaudet AL, Sly WS, Valle D (eds): The metabolic basis of inherited disease

  • K von Figura, V Gieselman, J Jaeken
  • New-York: McGrawHill,
  • 2001

eds): The metabolic bases of inherited disease

  • SR Scriver, AL Beaudet, WS Sly, D Valle
  • New-York: McGraw-Hill,
  • 2001

eds): The metabolic basis of inherited disease

  • gangliosidosis, in Scriver, AL Beaudet, WS Sly, D Valle
  • New-York: McGraw-Hill,
  • 2001

Programa Nacional de Diagnóstico Precoce

  • R Vilarinho L Osório, J Soares, M Almeida, C Carmona, E Martins
  • Arqui Med
  • 1999

Análise do genótipo na prevenção das esfingolipidoses

  • O Amaral, A Marcão, E Pinto, MG Ribeiro, MC Sá Miranda
  • in the CLN3 gene. Hum Genet
  • 1998

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