Articles

Page 5 of 82

Retraction Note: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing

Authors: Xiqiao Xu, Ruifeng Song, Kaiyue Hu, Ya Li, Haixia Jin, Bing Chen, Wenyan Song, Yile Zhang, Jiawei Xu and Yingpu Sun

Citation: Orphanet Journal of Rare Diseases 2023 18:318

Content type: Retraction Note Published on: 11 October 2023
- View Full Text
- View PDF
The patients’ organisations of children with primary immunodeficiency in Poland

Authors: Ewa Bernatowska, Malgorzata Pac and Dorota Marynowicz

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P24

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
- View Full Text
- View PDF
Advances in muscle imaging for Emery-Dreifuss muscular dystrophy

Authors: Nicola Carboni

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O26

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
- View Full Text
- View PDF
Clinical aspects of cardiolaminopathies and prospects for a cardiolaminopathy registry

Authors: Sara Benedetti

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O30

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
- View Full Text
- View PDF
Five novel TTR variants: associated phenotypes and structural consequences

Authors: Dorota Rowczenio, Helen Lachmann, Ashutosh Wechalekar, Janet Gilbertson, Marianna Fontana, Carol Whelan, Julian Gillmore and Philip Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P28

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
Prevalence, risk factors and correlation with cardiac involvement of carpal tunnel syndrome in amyloidosis

Authors: Agnese Milandri, Simone Longhi, Christian Gagliardi, Mario Cinelli, Serena Foffi, Ilaria Bartolomei, Fabrizio Salvi and Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P32

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
Determinants for research on rare diseases

Authors: Francesc Palau

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O16

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
- View Full Text
- View PDF
Correction: Meeting abstracts from the 11th edition of the European conference on Rare Diseases & Orphan Products (ECRD) 2022

Authors:

Citation: Orphanet Journal of Rare Diseases 2023 18:370

Content type: Correction Published on: 30 November 2023

The original article was published in Orphanet Journal of Rare Diseases 2023 18:118
- View Full Text
- View PDF
Comparative demographics of the European Cystic Fibrosis population: does EU membership confer an advantage?

Authors: Anil Mehta, Jonathan McCormick and Milan Macek Jr

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O20

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
- View Full Text
- View PDF
The Italian project to increase health professionals’ training and awareness on rare diseases

Authors: Simona Bellagambi

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A16

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
- View Full Text
- View PDF
Empowerment Weekends for young adults

Authors: Annette Lemli and Nicole Schwarzer

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O35

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
- View Full Text
- View PDF
Correction to: Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8

Authors: Junqi Feng, Chenxi Yang, Ling Zhu, Yuchen Zhang, Xiaoxu Zhao, Chi Chen, Qi-xing Chen, Qiang Shu, Pingping Jiang and Fan Tong

Citation: Orphanet Journal of Rare Diseases 2021 16:505

Content type: Correction Published on: 7 December 2021

The original article was published in Orphanet Journal of Rare Diseases 2021 16:392
- View Full Text
- View PDF
Towards a European platform for Rare Diseases Registries

Authors: Ciarán Nicholl

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O6

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
- View Full Text
- View PDF
Diflunisal in late-onset FAP patients with moderate to severe neuropathy

Authors: Laura Obici, Andrea Cortese, Stefano Perlini, Alessandro Lozza, Simona Casarini, Enrico Alfonsi and Giampaolo Merlini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O24

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
Biopsy experience in a FAP endemic area

Authors: Manuel Melo Pires

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I15

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

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia

Authors: Holm Schneider, Pascal Schneider, Peter Krieg, AnhThu Dang, Kenneth Huttner and Katharina Hermes

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P10

Content type: Poster presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
- View Full Text
- View PDF
Novel conformation-specific monoclonal antibodies against amyloidogenic forms of transthyretin

Authors: Jeffrey N Higaki, Avi Chakrabartty, Natalie J Galant, Bradley Hammerson, Ronald Torres, Joshua Salmans, Robin Barbour and Gene G Kinney

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P1

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
Evaluation of population newborn screening practices for rare disorders in member states of the European Union

Authors: Luciano Vittozzi, Georg F Hoffmann, Martina Cornel and Gerard Loeber

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P26

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
- View Full Text
- View PDF
The German plan for rare diseases: a development in progress

Authors: Johann Mathias Graf von der Schulenburg

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O1

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
- View Full Text
- View PDF
Round Table: Discussion with families and lay associations

Authors: Tiziana Mongini and Alessandra Gambineri

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O28

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
- View Full Text
- View PDF
Correction to: Clinical features and treatment efficacy for IgG4-related thyroiditis

Authors: Xinxin Han, Panpan Zhang, Jieqiong Li, Zheng Liu, Hui Lu, Xuan Luo, Boju Pan, Xiaolan Lian, Xuejun Zeng, Wen Zhang and Xiaofeng Zeng

Citation: Orphanet Journal of Rare Diseases 2021 16:459

Content type: Correction Published on: 1 November 2021

The original article was published in Orphanet Journal of Rare Diseases 2021 16:324
- View Full Text
- View PDF
ECLip-the European consortium on lipodystrophies: an update

Authors: David Araújo-Vilar

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O32

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
- View Full Text
- View PDF
Usefulness of combining electrocardiogram and echocardiography findings and brain natriuretic peptide in early detection of cardiac amyloidosis in subjects with transthyretin gene mutation

Authors: Gianluca Di Bella, Fabio Minutoli, Anna Mazzeo, Matteo Cssale, Claudia Stancanelli, Scipione Carerj, Sergio Baldari and Giuseppe Vita

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P34

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
Predictors of orphan drug approval

Authors: Harald Heemstra

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O18

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
- View Full Text
- View PDF
Scope and management of Patient Registries for orphan rare disease (ORD) meeting the demands of all involved stakeholders

Authors: Elizabeth Hernberg-Ståhl

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O22

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
- View Full Text
- View PDF
Spina Bifida and primary prevention

Authors: Pierre Mertens

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A18

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
- View Full Text
- View PDF
Correction to: Analysis of the first ten years of FDA’s rare pediatric disease priority review voucher program: designations, diseases, and drug development

Authors: Catherine Mease, Kathleen L. Miller, Lewis J. Fermaglich, Jeanine Best, Gumei Liu and Erika Torjusen

Citation: Orphanet Journal of Rare Diseases 2024 19:131

Content type: Correction Published on: 21 March 2024

The original article was published in Orphanet Journal of Rare Diseases 2024 19:86
- View Full Text
- View PDF
EPIRARE survey on activities and needs of rare disease registries in the European Union

Authors: Domenica Taruscio, Sabina Gainotti, Luciano Vittozzi, Fabrizio Bianchi, Monica Ensini and Manuel Posada

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A22

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
- View Full Text
- View PDF
Correction: Estimating mortality in rare diseases using a population-based registry, 2002 through 2019

Authors: Monica Mazzucato, Laura Visonà Dalla Pozza, Cinzia Minichiello, Ema Toto, Andrea Vianello and Paola Facchin

Citation: Orphanet Journal of Rare Diseases 2024 19:43

Content type: Correction Published on: 6 February 2024

The original article was published in Orphanet Journal of Rare Diseases 2023 18:362
- View Full Text
- View PDF
State of the art of rare disease activities in Europe: a EUCERD perspective

Authors: Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A1

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
- View Full Text
- View PDF
National Rare Disease Registries: overview from Spain

Authors: M Posada de la Paz, V Alonso, O Zurriaga, J Astray, JM Aldana-Espinal, MJ Margolles, J Jiménez, JA Palomar, M Santana, E Ramalle-Gomarra, JM Ramos, FE Arribas, R Álamo, G Gutiérrez-Ávila, A Galmés, M García Ribes…

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):O8

Content type: Oral presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
- View Full Text
- View PDF
Quality of life in ATTR amyloidosis

Authors: Thirusha Lane, Alica Bangova, Marianna Fontana, David F Hutt, Svetla G Strehina, Carol J Whelan, Philip N Hawkins and Julian D Gillmore

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O26

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
Setting up strategies: patient inclusion in biobank and genomics research in Europe

Authors: Pauline McCormack and Anna Kole

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P2

Content type: Poster presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
- View Full Text
- View PDF
Correction : Health-related quality of life and health literacy in patients with systemic mastocytosis and mast cell activation syndrome

Authors: Tobias Jürgen Schmidt, Julia Sellin, Gerhard J. Molderings, Rupert Conrad and Martin Mücke

Citation: Orphanet Journal of Rare Diseases 2023 18:29

Content type: Correction Published on: 16 February 2023

The original article was published in Orphanet Journal of Rare Diseases 2022 17:295
- View Full Text
- View PDF
Minimal assessment of the index case: the point of view of the cardiologist

Authors: Michel Slama

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I21

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

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
E-learning course for Norwegian caregivers

Authors: Gro Trae

Citation: Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P12

Content type: Poster presentation Published on: 11 November 2014

This article is part of a Supplement: Volume 9 Supplement 1
- View Full Text
- View PDF
Correction: Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan

Authors: Yuta Koto, Aya Narita, Shinichi Noto, Midori Ono, Anna Lissa Hamada and Norio Sakai

Citation: Orphanet Journal of Rare Diseases 2023 18:67

Content type: Correction Published on: 24 March 2023

The original article was published in Orphanet Journal of Rare Diseases 2022 17:280
- View Full Text
- View PDF
Wild-type transthyretin amyloidosis in female patients

Authors: Arnt V Kristen, Ralf Bauer, Fabian aus dem Siepen, Christoph Kimmich, Katrin Hinderhofer, Christoph Röcken and Hugo A Katus

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O9

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
The role of complement in ATTR amyloidosis: a new therapeutic avenue?

Authors: Elena Panayiotou, Eleni Fella, Rebecca Papacharalambous, Stavros Malas and Theodore Kyriakides

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P3

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
Symptomatic therapy in ATTR amyloidosis: pain killers in TTR-FAP

Authors: Nadine Attal

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I1

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

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
Issues of management of Epidermolysis bullosa in Georgia

Authors: Oleg Kvlividze, Tamar Chigladze, George Tvaliashvili and George Galdava

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P28

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
- View Full Text
- View PDF
Recommendations for the development of national plans for rare diseases

Authors: Albert Van der Zeijden and Jolanda Huizer

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O3

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
- View Full Text
- View PDF
Applications of the PMO platform to genetic diseases

Authors: Ryszard Kole

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O34

Content type: Oral presentation Published on: 11 November 2015

This article is part of a Supplement: Volume 10 Supplement 2
- View Full Text
- View PDF
Delayed small bowel octreotide response in patients with hereditary transthyretin amyloidosis

Authors: Wixner Jonas, Ole Suhr, Pontus Karling and Greger Lindberg

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P36

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
MR-Neurography of the sural nerve in patients with hereditary amyloidosis

Authors: Jennifer Kollmer, Markus Weiler, Jan Purrucker, Ute Hegenbart, Stefan Schönland, Christoph Kimmich, Martin Bendszus and Mirko Pham

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P40

Content type: Poster presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
EMP's first steps in the field of clinical trials

Authors: Greetje Goossens

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O24

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
- View Full Text
- View PDF
Correction to: Genomic characteristics of two breast malignant phyllodes tumors during pregnancy and lactation identified through whole-exome sequencing

Authors: Ting Lei, Mengjia Shen, Xu Deng, Yongqiang Shi, Yan Peng, Hui Wang and Tongbing Chen

Citation: Orphanet Journal of Rare Diseases 2022 17:427

Content type: Correction Published on: 5 December 2022

The original article was published in Orphanet Journal of Rare Diseases 2022 17:382
- View Full Text
- View PDF
National plans: case study Belgium

Authors: Ri De Ridder

Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A3

Content type: Meeting abstract Published on: 22 November 2012

This article is part of a Supplement: Volume 7 Supplement 2
- View Full Text
- View PDF
Transthyretin familial amyloid polyneuropathy impact on health-related quality of life

Authors: Mónica Inês, Teresa Coelho, Isabel Conceição, Lara Ferreira, Mamede de Carvalho and João Costa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O28

Content type: Oral presentation Published on: 2 November 2015

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF
TTR amyloidosis: a scientific journey since Andrade

Authors: Maria João Saraiva

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I19

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

This article is part of a Supplement: Volume 10 Supplement 1
- View Full Text
- View PDF

How was your experience today?

Rating Please select one rating

Awful

Bad

Good

Great

Thank you for your feedback.

Tell us why (opens in a new tab)

Articles

Follow

Orphanet Journal of Rare Diseases

Contact us