Management of rare diseases
نویسندگان
چکیده
منابع مشابه
Toward better management of rare and orphan pulmonary diseases.
Firstly, with a conservative estimate of primary or secondary lung involvement occurring in ∼5% of rare diseases (>6000 types), approximately 1–2 million people in the European Union are likely to be affected by rare pulmonary diseases. Therefore, cumulatively, rare pulmonary diseases account for a significant burden of disease, as many of them are severe conditions that result in premature dea...
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Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenes...
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ژورنال
عنوان ژورنال: QJM: An International Journal of Medicine
سال: 2006
ISSN: 1460-2393,1460-2725
DOI: 10.1093/qjmed/hcl006