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Amyloid
The Journal of Protein Folding Disorders
Volume 10, 2003 - Issue sup1
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Articles

Clinical and therapeutic implications of presymptomatic gene testing for familial amyloidotic polyneuropathy (FAP)

Maria de Lourdes Sales-LuísDepartment of Neurology, University Hospital of Santa Maria Centro de Estudos Egas Moniz, IMM of Faculty of Medicine of Lisbon, Lisbon, PortugalCorrespondence[email protected]
,
Isabel ConceiçãoDepartment of Neurology, University Hospital of Santa Maria Centro de Estudos Egas Moniz, IMM of Faculty of Medicine of Lisbon, Lisbon, Portugal
&
Mamede de CarvalhoDepartment of Neurology, University Hospital of Santa Maria Centro de Estudos Egas Moniz, IMM of Faculty of Medicine of Lisbon, Lisbon, Portugal
Pages 26-31 | Published online: 30 Jan 2020

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Chloe M. Mak, Yok-Lam Kwong, Ching-Wan Lam, See-Ching Chan, Chung-Mau Lo, Sheung-Tak Fan, Chee-My Chang, Yuk-Kwong Lau, Lok-Sun U & Sidney Tam. (2007) Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese. Amyloid 14:4, pages 293-297.
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Articles from other publishers (6)

A. C. Martins, A. M. Rosa, E. Costa, C. Tavares, M. J. Quadrado & J. N. Murta. (2015) Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review. BioMed Research International 2015, pages 1-9.
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Kátia Valdrez, Susana Silva, Teresa Coelho & Elisabete Alves. (2014) Awareness and motives for use and non-use of preimplantation genetic diagnosis in familial amyloid polyneuropathy mutation carriers. Prenatal Diagnosis 34:9, pages 886-892.
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Milena Paneque, Carolina Lemos, Alda Sousa, Luis Velázquez, Manuela Fleming & Jorge Sequeiros. (2009) Role of the Disease in the Psychological Impact of Pre‐Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parent. Journal of Genetic Counseling 18:5, pages 483-493.
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Anita Graceffa, Massimo Russo, Gian Luca Vita, Antonio Toscano, Roberto Dattola, Corrado Messina, Giuseppe Vita & Anna Mazzeo. (2009) Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy. Neuromuscular Disorders 19:1, pages 44-48.
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Xu Hou, Marie-Isabel Aguilar & David H. Small. (2007) Transthyretin and familial amyloidotic polyneuropathy. FEBS Journal 274:7, pages 1637-1650.
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L Rolim, Â Leite, S Lêdo, M Paneque, J Sequeiros & M Fleming. (2006) Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. Clinical Genetics 69:4, pages 297-305.
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