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Hunter disease

maladie de Hunter

santé - iate.europa.eu

Other examples include Tay-Sachs disease, Hunter disease and Pompe disease.

D'autres exemples incluent la maladie de Tay-Sachs , maladie de Hunter et la maladie de Pompe .

général - CCMatrix (Wikipedia + CommonCrawl)

New therapy could treat children with Hunter disease

Une nouvelle thérapie pourrait traiter les enfants atteints de la maladie de Hunter

général - CCMatrix (Wikipedia + CommonCrawl)

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Germline and somatic mosaicism in a female carrier of hunter disease.Carrier detection in a mucopolysaccharidosis type II family (Hunter disease) allowed the identification of germline and somatic mosaicism in the patient's mother: the R443X mutation was found in a varying proportion in tested tissue (7%...

santé - core.ac.uk - PDF: www.pubmedcentral.nih.gov

Hunter disease

mucopolysaccharidose de type II

santé - iate.europa.eu

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Analysis of the ids gene in 38 patients with hunter syndrome: the c.879g>a (p.gln293gln) synonymous variation in a female create exonic splicing....(p.Gln293Gln) was identified in a female Hunter disease patient, which resulted in loss of the original splicing site, activated a cryptic splicing site upstream, leading to a 28 bp deletion and a premature termination...

général - core.ac.uk - PDF: doaj.org

Enzymatic replacement therapy for hunter disease: up to 9 years experience with 17 patientsHunter disease is an X-linked lysosomal storage disorder characterized by progressive storage of glycosaminoglycans (GAGs) and multi-organ impairment....

PDF: doaj.org

Analysis of the ids gene in 38 patients with hunter syndrome: the c.879g>a (p.gln293gln) synonymous variation in a female create exonic splicing...(p.Gln293Gln) was identified in a female Hunter disease patient, which resulted in loss of the original splicing site, activated a cryptic splicing site upstream, leading to a 28 bp deletion and a premature termination...

Hunter disease eclinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease...Background Computer-based teaching (CBT) is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II)....

PDF: doaj.org