Literature DB >> 17397566

[Late-onset familial amyloid polyneuropathy in the Safor (Valencia) area: four case reports].

C Tornero Estébanez1, C Soriano Soriano, A Giménez Escrich, S Rull Segura.   

Abstract

Four cases of late onset familial amyloid polyneuropathy diagnosed in relatively advanced ages and within 3 families of our area where the disease had never been described are presented. The possible origin of the mutation and need to consider this diagnosis even when there is no known family background or when the age of presentation is late are commented. The nerve biopsy does not always show the deposits as these are patchy and DNA studies or detection of abnormal TTR in serum are necessary for the diagnosis.

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Year:  2007        PMID: 17397566     DOI: 10.1157/13100199

Source DB:  PubMed          Journal:  Rev Clin Esp        ISSN: 0014-2565            Impact factor:   1.556


  3 in total

1.  Accessibility to Occupational Therapy Services for Hereditary Transthyretin Amyloidosis.

Authors:  Aina Gayà-Barroso; Juan González-Moreno; Adrián Rodríguez; Tomás Ripoll-Vera; Inés Losada-López; Margarita Gili; Eugenia Cisneros-Barroso
Journal:  Int J Environ Res Public Health       Date:  2022-04-07       Impact factor: 4.614

2.  Establishing Occupational Therapy Needs: A Semi-Structured Interview with Hereditary Transthyretin Amyloidosis Patients.

Authors:  Aina Gayà-Barroso; Juan González-Moreno; Adrián Rodríguez; Tomás Ripoll-Vera; Inés Losada-López; Margarita Gili; Milena Paneque; Eugenia Cisneros-Barroso
Journal:  Int J Environ Res Public Health       Date:  2022-09-17       Impact factor: 4.614

3.  Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study.

Authors:  Juan Buades Reinés; Tomás Ripoll Vera; Mercedes Uson Martín; Hernán Andréu Serra; Ma Margarita Company Campins; José Miguel Diéguez Millán; Cristina Gallego Lezaun; Manuel Raya Cruz
Journal:  Orphanet J Rare Dis       Date:  2014-02-26       Impact factor: 4.123

  3 in total

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