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Therapy of ATTR amyloidosis: perspective
Amyloid, 2011Abstract: Although liver transplantation is the only therapy to halt the clinical manifestations of transthyretin (TTR) related familial amyloidotic polyneuropathy (FAP), the therapy has given rise...
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Inotersen treatment for ATTR amyloidosis
Amyloid, 2019Until recently there has been limited specific therapy for transthyretin amyloidosis (ATTR). One possible therapy is to reduce the availability of the protein precursor necessary for amyloid fibril...
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[Neurological manifestations of ATTR amyloidosis].
Innere Medizin (Heidelberg, Germany), 2023Transthyretin amyloidosis (ATTR) is a rare disease in which the protein transthyretin (TTR) is deposited in the form of amyloid fibrils in various tissues and organs and secondarily leads to functional impairment, especially in peripheral nerves and the heart. A differentiation is made between hereditary and sporadic forms.
Helena F, Pernice, Katrin, Hahn
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The challenging histological diagnosis of transthyretin (ATTR) amyloidosis
Amyloid, 2017In all kinds of amyloidosis, diagnosis depends on a biopsy, e.g. from subcutaneous adipose tissue (SAT) of abdomen.
Ellahe, Charkhkar, Per, Westermark
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ATTR: the forgotten kidney amyloidosis
Nephrology Dialysis TransplantationABSTRACT The main manifestation of wild-type transthyretin amyloidosis (wtATTR) is cardiac disease in the elderly. Kidney involvement is frequently underappreciated and has been dismissed as a functional consequence of heart failure.
Barbara Soler +2 more
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Drugs of Today, 2019
Plasma protein transthyretin (TTR) can undergo conformational change resulting in the formation of amyloid fibrils that can then cause amyloidosis. This can occur spontaneously in individuals over the age of 70-80 resulting in wild-type transthyretin amyloidosis (ATTR) (with cardiomyopathy). This then progresses to fatal cardiac failure.
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Plasma protein transthyretin (TTR) can undergo conformational change resulting in the formation of amyloid fibrils that can then cause amyloidosis. This can occur spontaneously in individuals over the age of 70-80 resulting in wild-type transthyretin amyloidosis (ATTR) (with cardiomyopathy). This then progresses to fatal cardiac failure.
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Familial case of hereditary transthyretin amyloidosis with polyneuropathy (ATTR amyloidosis)
Nauchno-prakticheskii zhurnal «Medicinskaia genetika, 2023Приводится описание семейного случая наследственного транстиретинового амилоидоза. Проведено клиническое обследование и молекулярно-генетическое тестирование пациента 50 лет, его родного брата 44 лет и его сына 30 лет с симптомами полинейропатии, нарушением пищеварения и мочеиспускания.
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[Carpal tunnel syndrome and ATTR-amyloidosis].
Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V..., 2019Carpal tunnel syndrome is the most common compression syndrome of a peripheral nerve. It mostly affects patients older than 50 years. One cause for a carpal tunnel syndrome is transthyretin (ATTR) amyloid, which deposits in the carpal tunnel tissue. Carpal tunnel syndrome can be the first symptom of ATTR amyloidosis, which in the worst case leads to ...
Katharina, Hahn +5 more
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Genotype-Phenotype Correlations in ATTR Amyloidosis
Heart Failure Clinics: Hereditary transthyretin-related amyloidosis (hATTR) is the most common form of familial amyloidosis. It is an autosomal dominant disease caused by a pathogenic variant in the TTR gene. More than 140 TTR gene variants have been associated with hATTR, with the Val30Met variant representing the most common worldwide.
Monda, Emanuele +8 more
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