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Hereditary transthyretine amyloidosis in Slovenia

Authors: Janez Zidar

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P17

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Epidemiology of transthyretin familial amyloid polyneuropathy in Portugal

Authors: Mónica Inês, Teresa Coelho, Isabel Conceição, Filipa Duarte-Ramos, Mamede de Carvalho and João Costa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P21

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Early access to medicinal products: potential and limits

Authors: Pauline J Evers

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O24

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Living with OI = Osteogenesis imperfecta = brittle bone disease

Authors: Ute Wallentin

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P9

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Misdiagnoses of transthyretin amyloidosis: a clinical and electrodiagnostic study

Authors: Andrea Cortese, Alessandro Lozza, Elisa Vegezzi, Enrico Alfonsi, Arrigo Moglia, Giampaolo Merlini and Laura Obici

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O13

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: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

An amendment to this paper has been published and can be accessed via the original article.

Authors: Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Leverence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann and Raul Urrutia

Citation: Orphanet Journal of Rare Diseases 2021 16:247

Content type: Correction Published on: 1 June 2021

The original article was published in Orphanet Journal of Rare Diseases 2021 16:66
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Life paths of familial amiloidotic polyneuropathy patients: a descriptive study

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):P56

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Comparison and identification of early clinical, biological and echocardiographic prognostic markers in cardiac amyloidosis

Authors: Thibaud Damy, Arnaud Jaccard, Aziz Guellich, David Lavergne, François Deux Jean, Jehan Dupuis, Valérie Frenkel and Dania Mohty

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P60

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Abilities of development support in children with genetic syndromes. Experiences from annual integrational meetings

Authors: Alina T Midro, Olga Haus, Krystyna Kobel-Buys, Jolanta Wierzba and Stanisław Zajączek

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P15

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Emerin oligomerisation properties, impact on lamin and actin recognition

Authors: Isaline Herrada and Sophie Zinn-Justin

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O17

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
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Preliminary assessment of neuropathy progression in patients with hereditary ATTR amyloidosis after orthotopic liver transplantation (OLT)

Authors: David Adams, Juan Buades, Ole Suhr, Laura Obici and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P19

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Glu89Gln transthyretin-related amyloidosis in Italy and Bulgaria: does geographic area influence phenotype beyond the shared mutation?

Authors: Christian Gagliardi, Mariana Gospodinova, Simone Longhi, Agnese Milandri, Mario Cinelli, Ivailo Tournev, Fabrizio Salvi and Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P23

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Very rare disorders - organisation of care

Authors: Raoul CM Hennekam

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O11

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 company experience of the first MoCA pilot project

Authors: Wills Hughes-Wilson

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O26

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Specific social challenges for rare diseases: the French experience, 2005-2014

Authors: Christel Nourissier

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O30

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Positron Emission Tomography (PET) utilizing Pittsburgh compound B (PIB) detects amyloid heart deposits in hereditary transthyretin amyloidosis (ATTR).

Authors: Björn Pilebro, Per Lindqvist, Sandra Gustafsson, Per Westermark, Torbjörn Sundström, Gunnar Antoni, Ole Suhr and Jens Sörensen

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O15

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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The Epidermolysis bullosa Center Freiburg – patient care, diagnostics and research

Authors: Leena Bruckner-Tuderman and Daniela Kirstein

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O1

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Imaging cardiac ATTR amyloid

Authors: Philip N Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I10

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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Patients with hereditary ATTR amyloidosis experience an increasing burden of illness as the disease progresses

Authors: David Adams, Oved Amitay and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P58

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Is 99mTc-diphosphonate uptake the earliest sign of cardiac amyloidosis development in asymptomatic Glu89Gln transthyretin gene mutation carriers?

Authors: Fabio Minutoli, Anna Mazzeo, Gianluca Di Bella, Giuseppe Vita and Sergio Baldari

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P62

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Epidemiology of Familial Amyloid Polyneuropathy in Bulgaria

Authors: Stayko Sarafov, Mariana Gospodinova, Velina Guergueltcheva Velina, Andrei Kirov, Chamova Teodora, Tihomir Todorov, Alebena Todorova and Ivailo Tournev

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O2

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Aging among persons with invisible disorders: the importance of patient organisations

Authors: Vigdis Hegna Myrvang and Kirsten Thorsen

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P17

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Wilson France: a national database for Wilson’s disease

Authors: Jean-Marc Trocello

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P21

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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LMNA-associated myopathies: the Italian experience in a large cohort of patients

Authors: Lorenzo Maggi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O19

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-related Familial Amyloid Polyneuropathy (TTR-FAP) caused by a very rare, de novo mutation in a Polish patient.

Authors: Marta Lipowska, Dorota Rowczenio, Janet Gilbertson, Philip N Hawkins, Agnieszka Ptasinska-Perkowska and Hanna Drac

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P25

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Advancing diagnosis, care and treatment for people with neuromuscular diseases around the world: a network of excellence to catalyse research infrastructure globally

Authors: Kate Bushby

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O13

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

Authors: Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl and Johan L. K. Van Hove

Citation: Orphanet Journal of Rare Diseases 2023 18:54

Content type: Correction Published on: 13 March 2023

The original article was published in Orphanet Journal of Rare Diseases 2022 17:423
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Differential pricing: solidarity at times of financial crisis

Authors: Flaminia Macchia

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O28

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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The involvement of patients in developing clinical guidelines

Authors: Kay Parkinson

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A13

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Social profiles project - only the strong survive

Authors: Birthe Byskov Holm

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O32

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Quality monitoring in the English National Health Service

Authors: Edmund Jessop

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O3

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Phase 2, open-label extension (OLE) study of revusiran, an investigational RNAi therapeutic for the treatment of patients with transthyretin cardiac amyloidosis

Authors: Julian D Gillmore, Rodney H Falk, Mathew S Maurer, Mazen Hanna, Verena Karsten, John Vest, Jared Gollob and Philip N Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O21

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: Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis

Authors: L. Johansen, F. O’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns and K. L. Galvin

Citation: Orphanet Journal of Rare Diseases 2024 19:163

Content type: Correction Published on: 18 April 2024

The original article was published in Orphanet Journal of Rare Diseases 2024 19:129
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Specific ocular changes in TTR Met30-FAP after liver transplantation

Authors: Natalia Ferreira, David Dias, Carmen Vilas-Boas, Isabel Fonseca and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P64

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Correction: Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

Authors: Elizabeth Rosenfeld, Ravi Prakash Reddy Nanga, Alfredo Lucas, Andrew Y. Revell, Allison Thomas, Nina H. Thomas, David R. Roalf, Russell T. Shinohara, Ravinder Reddy, Kathryn A. Davis and Diva D. De León

Citation: Orphanet Journal of Rare Diseases 2022 17:315

Content type: Correction Published on: 18 August 2022

The original article was published in Orphanet Journal of Rare Diseases 2022 17:248
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The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M

Authors: Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Isabel Alonso, Manuela Grazina, Alda Sousa and Carolina Lemos

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O4

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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EU Clinical trial regulation in the environment of rare diseases: time for a change

Authors: Martine Zimmermann

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P19

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Psychological aspects of living with rare disease: development of psychological skills of rare disease patients. How to improve patients’ quality of life by developing psychological skills necessary to cope with the disease

Authors: Yolanta Wierzba, Joanna Jaglowska and Emilia G Suszka

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P23

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Teachings from the French database of TTR familial amyloidotic polyneuropathy (TTR-FAP): large genetic and phenotypic heterogeneity, usefulness of TTR gene testing.

Authors: David Adams, Cecile Cauquil, Clovis Adam, Celie Labeyrie, Guillemette Beaudonnet, Anne Mantel and Marie Theaudin

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P27

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Neurophysiological pitfalls in TTR-FAP Val30Met

Authors: Isabel Conceição, Cristiana Silva, Mariana Costa and José Castro

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P31

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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The European research area network – E-Rare

Authors: Sophie Koutouzov

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O15

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Correction to: Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China

Authors: Guofeng Zhang, Jinli Liu, Yushuo Wang, Yue Wang, Xianliang Jiang, Yan Peng, Jun Xiao, Wei Wei, Bing Shen, Long Yi, Jay H. Ryu and Xiaowen Hu

Citation: Orphanet Journal of Rare Diseases 2022 17:312

Content type: Correction Published on: 11 August 2022

The original article was published in Orphanet Journal of Rare Diseases 2022 17:203
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Training medical students on rare disorders

Authors: Paula C Byrne

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A15

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
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Erratum to: anorectal malformations

Authors: Marc A Levitt and Alberto Peña

Citation: Orphanet Journal of Rare Diseases 2012 7:98

Content type: Erratum Published on: 15 December 2012

The original article was published in Orphanet Journal of Rare Diseases 2007 2:33
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Can people living with a rare disease be independent? Inspiring personal stories

Authors: Gabor Pogany

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O34

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Correction to: The evolution of the mitochondrial disease diagnostic odyssey

Authors: John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales and Michio Hirano

Citation: Orphanet Journal of Rare Diseases 2023 18:194

Content type: Correction Published on: 20 July 2023

The original article was published in Orphanet Journal of Rare Diseases 2023 18:157
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Ocular manifestations of transthyretin-related familial amyloid polyneuropathy

Authors: Antoine Rousseau, Emmanuel Barreau, Julia Meney, Zoia Mincheva, Cécile Cauquil, Marie Théaudin, Marc Labetoulle and David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O19

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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FindZebra - the search engine for difficult medical cases

Authors: Ole Winther, Dan Svenstrup, Philip P Henningsen, Róbert Kristiásson and Henrik L Jørgensen

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O5

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
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Diflunisal therapy for cardiac ATTR amyloidosis: a longitudinal, prospective, single centre study

Authors: Candida C Quarta, Sevda Ozer, Carol J Whelan, Marianna Fontana, Dorota M Rowczenio, Janet A Gilbertson, Philip N Hawkins and Julian D Gillmore

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O23

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
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Emerging CNS involvement in FAP-TTR long survival patients

Authors: Luisa Maia

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I14

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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