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• W2032667717 abstract "Summary Hurler's syndrome or mucopolysaccharidosis type IH (MPS IH) is the most severe form of mucopolysaccharidosis type I (MPS I). It is caused by the deficiency of the alpha- l -iduronidase (IDUA) activity. The accumulation of undegraded MPS affects various organs and tissues. Prenatal diagnosis MPS IH is possible on both cultured amniotic fluid cells and chorionic villus biopsies and it is preferably achieved by the assay of IDUA in uncultured chorionic villus as this allows early (12th week), rapid (2–3 days) and reliable results. Aim of the study We summarise the results of antenatal diagnosis in a woman of 36-year-old which has previously tow children affected by Hurler disease. Patients and methods Molecular analysis confirmed the diagnosis for the MPS I studied families. Sequencing of the DNA and multiplex fluorescent PCR were employed for mutation analysis, contamination detection and diagnosis of Hurler syndrome. Results Sequencing of genomic DNA extracted from trophoblaste and the two parents showed the heterozygous status of p.F602X. Microsatellite markers study confirmed the sequencing results and showed the absence of contamination of the foetal DNA by maternal DNA. Conclusion The molecular prenatal diagnosis is now easy and helps some Tunisian family to detect and identify the inherited fetal alleles." @default.
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• W2032667717 date "2010-02-01" @default.
• W2032667717 modified "2023-09-26" @default.
• W2032667717 title "Prenatal diagnosis of the Hurler syndrome by microsatellite markers analysis" @default.
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• W2032667717 doi "https://doi.org/10.1016/j.immbio.2009.10.002" @default.
• W2032667717 hasPublicationYear "2010" @default.
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