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The rehabilitation in the management of Transthyretin Familial Amyloid Polyneuropathy

Authors: Agnès Morier, Alyssa De Sousa, Colombe Lemoine, Cecile Cauquil, Marie Théaudin, David Adams and Hervé Chanut

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P66

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Familial amyloidotic polyneuropathy in Crete, Greece

Authors: Minas Tzagournissakis, Cleanthe Spanaki, Georgios Amoiridis, Demetrios Samonakis, Andreas Plaitakis and Panayiotis Mitsias

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O6

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Authors: Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo and Tero-Pekka Alastalo

Citation: Orphanet Journal of Rare Diseases 2022 17:59

Content type: Correction Published on: 17 February 2022

The original article was published in Orphanet Journal of Rare Diseases 2021 16:412
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New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare diseases community

Authors: Virginie Hivert, Natalia Martin, Marc Hanauer and Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P25

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Metreleptin therapy in LMNA-linked lipodystrophies

Authors: Camille Vatier and Corinne Vigouroux

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O27

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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A common French-Italian laminopathy registry – update & future prospects

Authors: Gisèle Bonne and Rabah Ben Yaou

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O31

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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Transthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease

Authors: Manuel Raya-Cruz, Juan Buades-Reines, Cristina Gallego-Lezaun, Ignacio Ferullo, Tomas Ripoll-Vera, Mercedes Uson-Martín and Hernan Andreu-Serra

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P29

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Genotypic and phenotypic presentation of Glu89Gln mutation in Turkey

Authors: Hacer Durmus, Zeliha Matur, Murat Mert Atmaca, Mehves Poda, Arman Cakar, Piraye Serdaroglu-Oflazer, Feza Deymeer and Yesim Parman

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P33

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Health technology assessment: oncology drugs with orphan designation as an example

Authors: Claudia Wild

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O17

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases

Authors: Ana Rath, Ségolène Aymé and Bertrand Bellet

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O21

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity

Authors: Ilona Autti-Rämö

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A17

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Fighting for the cures of rare genetic diseases: worthy ideas and promising results demand for strategic research management and for integration of competences and efforts

Authors: Francesca Sofia

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A21

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Familial Amyloid Polyneuropathy treatment with Tafamidis – evaluation of one- and two-year treatment in Porto, Portugal

Authors: Teresa Coelho, Ana Martins da Silva, Cristina Alves, Márcio Cardoso, Cecília Monteiro, Isabel Fonseca, Carla Rodrigues and Vanessa Costa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O25

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Se-atlas-cartographic representation of experts for rare diseases

Authors: Holger Storf, Tobias Hartz, Wulf Pfeiffer, Kathrin Rommel, Mareike Derks, Elisabeth Nyoungui, Joerg Schmidtke, Holm Graessner, Mirjam Knoell, Thomas Wagner and Frank Ueckert

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P1

Content type: Poster presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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New tools to diagnose and follow FAC patients: biomarkers

Authors: Giampaolo Merlini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I16

Content type: Invited speaker presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Guidelines for genetic counselling in ATTR amyloidosis

Authors: Jorge Sequeiros

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I20

Content type: Invited speaker presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Integration of Rare Diseases into Social Services

Authors: Raquel Castro and Dorica Dan

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P11

Content type: Poster presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Erratum to: Reconstructive management of the rare bilateral oral submucos fibrosisusing nasolabial flap in comparison with free radial forearm flap - a randomisedprospective trial

Oral sub mucous fibrosis is a rare chronic, progressive, pre malignant collagendisorder of oral mucosa in people of Asian descent characterized by trismus,blanching and stiffness of mucosa, burning sensation i...

Authors: Muhammad Faisal, Madiha Rana, Anjum Shaheen, Riaz Warraich, Horst Kokemueller, André Michael Eckardt, Nils-Claudius Gellrich and Majeed Rana

Citation: Orphanet Journal of Rare Diseases 2013 8:86

Content type: Erratum Published on: 14 June 2013

The original article was published in Orphanet Journal of Rare Diseases 2013 8:56
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DISCOVERY: a study examining the prevalence of transthyretin mutations in subjects suspected of having cardiac amyloidosis

Authors: Olakunle Akinboboye, Karthik Ananthasubramaniam, Amir Malik, Alberta Warner, Verena Karsten, Thibaud Damy, Herman A Taylor and Mathew S Maurer

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O8

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Orphanet Journal of Rare Diseases: Launch Editorial

Authors: Ségolène Aymé, Bruno Dallapiccola and Dian Donnai

Citation: Orphanet Journal of Rare Diseases 2006 1:1

Content type: Editorial Published on: 1 March 2006
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Diflunisal compassive use in transthyretin familial amyloidotic polyneuropathy (TTR-FAP): report of the first Spanish experience

Authors: Sebastián E Azorín Contesse, Christopher Cabib and Josep M Campistol

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P2

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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APTIC: a social network to improve the quality of life of members of patients' associations

Authors: Manuel Armayones, Eulàlia Hernández-Encuentra, Beni Gómez-Zúñiga, Noemí Guillamon, Gerardo Ontiveros, Ana Bosque and Begonya Nafría

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P27

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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State of the art of services in Europe: where are the problems?

Authors: Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O2

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Utility of patients’ registries to gather clinical, epidemiological and molecular information

Authors: Gaëlle Blandin and Christophe Béroud

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O29

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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Which support from the French Foundation of rare disease towards clinical trial set up in rare diseases?

Authors: Luigi Ravagnan

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O33

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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Cross-border genetic testing

Authors: David Barton

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O19

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Ageing in rare, chronic diseases

Authors: Cees Smit

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O23

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Value and specificity of rare diseases business model-is the pursuit of this societal priority sustainable?

Authors: M Dunoyer and P Rollet

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A23

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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State of the art of rare disease activities around the world: overview of the non-European landscape

Authors: Durhane Wong-Rieger

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A2

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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OSSE – open source registry software solution

Authors: Marita Muscholl, Martin Lablans, Thomas OF Wagner and Frank Ückert

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O9

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Psychopathological dimensions in familial amyloid polyneuropathy patients

Authors: Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Paula Freitas and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O27

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Cardiologic Phenotypes and Natural History of FAC

Authors: Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I18

Content type: Invited speaker presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

Authors: Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni and Enrico Bertini

Citation: Orphanet Journal of Rare Diseases 2022 17:18

Content type: Correction Published on: 17 January 2022

The original article was published in Orphanet Journal of Rare Diseases 2021 16:425
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Heart transplantation in hereditary ATTR amyloidosis

Authors: M Slama

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I22

Content type: Invited speaker presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Correction: Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa

Authors: Rachel Box, Catina Bernardis, Alexander Pleshkov, Nicky Jessop, Catherine Miller, Jennifer Skye, Virginia O’Brien, Matthew Veerkamp, Anna Carolina Ferreira da Rocha and Roger Cornwall

Citation: Orphanet Journal of Rare Diseases 2022 17:438

Content type: Correction Published on: 15 December 2022

The original article was published in Orphanet Journal of Rare Diseases 2022 17:406
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Correction to: Molecular basis of Leigh syndrome: a current look

The original version of this article [1] unfortunately included an error to an author’s name. Author Manuela Schubert Baldo was erroneously presented as Manuela Baldo Schubert.

Authors: Manuela Schubert Baldo and Laura Vilarinho

Citation: Orphanet Journal of Rare Diseases 2020 15:77

Content type: Correction Published on: 25 March 2020

The original article was published in Orphanet Journal of Rare Diseases 2020 15:31
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Positive real-world effectiveness of tafamidis for delaying disease progression in transthyretin familial amyloid polyneuropathy

Authors: Michelle Stewart, Denis Keohane, Sarah Short, Jose Alvir, Moh-Lim Ong and Rajiv Mundayat

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P4

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Neuropathic phenotypes and natural history of FAP

Authors: David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I2

Content type: Invited speaker presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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The added value of centres of expertise for rare disease patients in Europe

Authors: Anna A Kole and Yann le Cam

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O4

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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What to do when the neuropathy worsens after successful heart and liver transplantation in a Glu89Lys Transthyretin Amyloidosis?

Authors: Thierry Kuntzer and Francois Ochsner

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P37

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Disphosphonates cardiac uptake in familial amyloid neuropathy: Comparison between DPD and HMDP

Authors: Hamza Regaieg, Renata De Paola Chequer, Rana Ben Azzouna, Vincent Algalarrondo, Besma Mahida, Michel Slama, Dominique Le Guludec and François Rouzet

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P41

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Contribution of rare disease patient organisations to medical education

Authors: Rainald von Gizycki

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O25

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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A coordinated EU approach to informed access decisions: CAVOD process proposals – the possibility to turn concept into reality?

Authors: Wills Hughes-Wilson

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A25

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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The second French plan for rare diseases 2011-2014

Authors: Alain Garcia and Christel Nourissier

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A4

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Authors: Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi and Amal Al Teneiji

Citation: Orphanet Journal of Rare Diseases 2023 18:365

Content type: Correction Published on: 23 November 2023

The original article was published in Orphanet Journal of Rare Diseases 2022 17:388
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Correction to: Physical and mental growth and development in children with congenital hypothyroidism: a case–control study

Authors: Javad Nazari, Kimia Jafari, Maryam Chegini, Akram Maleki, Pari MirShafei, Ali Alimohammadi, Yasan Kazemzadeh, Reihaneh Mikaeliyan and Saeed Amini

Citation: Orphanet Journal of Rare Diseases 2021 16:506

Content type: Correction Published on: 7 December 2021

The original article was published in Orphanet Journal of Rare Diseases 2021 16:393
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Monitoring safety and effectiveness of Tafamidis in transthyretin amyloidosis in Italy: a 3-year longitudinal multicenter study in a non-endemic area

Authors: Andrea Cortese, Giuseppe Vita, Laura Obici, Marco Sabatelli, Gian Maria Fabrizi, Angelo Schenone, Giampaolo Merlini and Davide Pareyson

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P6

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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When to decide to enroll a TTR-FAP patient in a Clinical Trial?

Authors: Juan Buades

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I4

Content type: Invited speaker presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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How to code rare diseases with international terminologies?

Authors: Ana Rath, Bertrand Bellet, Annie Olry, Catherine Gonthier and Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O11

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Building centres of expertise according to the Dutch model?

Authors: Fons JM Gabreëls and Jolanda S Huizer

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O6

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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