Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature
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DOI: 10.1007/s00415-020-09962-6
Abstract: Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTR v ) in the TTR gene. Alongside cardiac dysfunction, the disease typically manifests with a severely progressive sensorimotor and autonomic polyneuropathy. Three different drugs, tafamidis, patisiran,… read more here.
Keywords: recommendations diagnostic; transthyretin amyloidosis; diagnostic therapeutic; amyloidosis ... See more keywords
DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine.
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DOI: 10.1055/a-2014-4505
Abstract: Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number… read more here.
Keywords: diagnostic puncture; prenatal medicine; puncture prenatal; recommendations diagnostic ... See more keywords