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Transthyretin-related hereditary amyloidosis
Familial amyloid polyneuropathy (FAP), also called transthyretin-related ... was first identified and described by Portuguese neurologist Mário Corino da ... Because most patients are heterozygote...
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Hereditary amyloid neuropathy with onset in lower limbs (Portuguese type) occurring in Portuguese immigrants has been reported from Brazil, France and ...
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Her family history was positive for hereditary systemic amyloidosis. A familial amyloidotic polyneuropathy with a Portuguese type I variant (Val→Met30) of the ...
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Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy-type I (Portuguese, Andrade).
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Genetics Home Reference: your guide to understanding genetic conditions .... Portuguese polyneuritic amyloidosis; Portuguese type familial amyloid neuropathy ...
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... studies in familial amyloid polyneuropathy--Portuguese type. M L Luís ... Blom S. Neurophysiological studies in hereditary amyloidosis with polyneuropathy.
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Aug 15, 2011 ... All types of amyloid contain a major fibril protein that defines the type of amyloid, plus .... Genetic aspects of transthyretin-related amyloidosis .... Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type.
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Type I familial amyloidotic polyneuropathy is an auto- somal dominant, inherited systemic amyloidosis charac- terized initially by dissociated sensory ...
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Prenatal Diagnosis of Hereditary Amyloidosis in a Portuguese Family ... neuropathy, prealbumin, polymerase ... Portuguese-type familial amyloid neuropathy ...
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The Portuguese type of familial amyloid polyneuropathy (FAP type I), a disabling ... Patients from seven of these ten kindreds were not known to have a genetic ...
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