Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

JOURNAL ARTICLE published 2014 in Orphanet Journal of Rare Diseases

Authors: Muriel de la Dure-Molla | Mickael Quentric | Paulo Yamaguti | Ana-Carolina Acevedo | Alan J Mighell | Miikka Vikkula | Mathilde Huckert | Ariane Berdal | Agnes Bloch-Zupan

Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

JOURNAL ARTICLE published 13 February 2024 in Orphanet Journal of Rare Diseases

Research funded by Bundesministerium für Bildung und Forschung (441409627)

Authors: Holm Graessner | Carola Reinhard | Tobias Bäumer | Annette Baumgärtner | Knut Brockmann | Norbert Brüggemann | Eva Bültmann | Jeanette Erdmann | Kirstin Heise | Günter Höglinger | Irina Hüning | Frank J. Kaiser | Christine Klein | Thomas Klopstock | Ingeborg Krägeloh-Mann | Markus Kraemer | Kerstin Luedtke | Martin Mücke | Thomas Musacchio | Andreas Nadke | Alma Osmanovic | Gabriele Ritter | Katharina Röse | Christopher Schippers | Ludger Schöls | Rebecca Schüle | Jörg B. Schulz | Joachim Sproß | Eveline Stasch | Gilbert Wunderlich | Alexander Münchau

Pulmonary hemorrhage syndrome associated with dengue fever, High-resolution computed tomography findings: a case report

JOURNAL ARTICLE published December 2009 in Orphanet Journal of Rare Diseases

Authors: Edson Marchiori | José LuizN Ferreira | Carolina N Bittencourt | César AdeAraújo Neto | Gláucia Zanetti | Cláudia M Mano | Alair ASD Santos | Alberto D Vianna

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population

JOURNAL ARTICLE published 4 September 2023 in Orphanet Journal of Rare Diseases

Research funded by JSPS KAKENHI (JP18K16974) | Japan Intractable Diseases Research Foundation (2020B03)

Authors: Yuki Sasaki | Kosuke Ishikawa | Kanako C. Hatanaka | Yumiko Oyamada | Yusuke Sakuhara | Tadashi Shimizu | Tatsuro Saito | Naoki Murao | Tomohiro Onodera | Takahiro Miura | Taku Maeda | Emi Funayama | Yutaka Hatanaka | Yuhei Yamamoto | Satoru Sasaki

Primary immune regulatory disorders: Undiagnosed needles in the haystack?

JOURNAL ARTICLE published 3 March 2022 in Orphanet Journal of Rare Diseases

Authors: Aisling M. Flinn | Andrew R. Gennery

Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022

JOURNAL ARTICLE published 28 November 2023 in Orphanet Journal of Rare Diseases

Research funded by National High Level Hospital Clinical Research Funding (2022-PUMCH-B-059) | Chinese Academy of Medical Sciences Initiative for Innovative Medicine (CIFMS 2021-I2M-1-003) | Innovative Research Group Project of the National Natural Science Foundation of China (81974183)

Authors: Jiayu Wu | Yang Yang | Jiaxin Yu | Luyao Qiao | Wei Zuo | Bo Zhang

A conceptual disease model for adult Pompe disease

JOURNAL ARTICLE published December 2015 in Orphanet Journal of Rare Diseases

Authors: Tim A. Kanters | W. Ken Redekop | Maureen P.M.H. Rutten-Van Mölken | Michelle E. Kruijshaar | Deniz Güngör | Ans T. van der Ploeg | Leona Hakkaart

Towards a European platform for Rare Diseases Registries

JOURNAL ARTICLE published 2014 in Orphanet Journal of Rare Diseases

Authors: Ciarán Nicholl

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

JOURNAL ARTICLE published 2013 in Orphanet Journal of Rare Diseases

Authors: James D Weisfeld-Adams | Lakshmi Mehta | Janet C Rucker | Francine R Dembitzer | Arnold Szporn | Fred D Lublin | Wendy J Introne | Vikas Bhambhani | Michael C Chicka | Catherine Cho

Untypical autoimmune pancreatitis and pancreatic cancer: differential diagnosis experiences extracted from misdiagnose of two cases

JOURNAL ARTICLE published December 2019 in Orphanet Journal of Rare Diseases

Authors: Gaopeng Li | Ting Liu | Jian Zheng | Wenqin Kang | Jun Xu | Zefeng Gao | Jinfeng Ma

Overcoming the barriers to diagnosis of Morquio A syndrome

JOURNAL ARTICLE published December 2014 in Orphanet Journal of Rare Diseases

Authors: Kaustuv Bhattacharya | Shanti Balasubramaniam | Yew Sing Choy | Michael Fietz | Antony Fu | Dong Kyu Jin | Ok-Hwa Kim | Motomichi Kosuga | Young Hee Kwun | Anita Inwood | Hsiang-Yu Lin | Jim McGill | Nancy J Mendelsohn | Torayuki Okuyama | Hasri Samion | Adeline Tan | Akemi Tanaka | Verasak Thamkunanon | Teck-Hock Toh | Albert D Yang | Shuan-Pei Lin

Urinary glutamine/glutamate ratio as a potential biomarker of pediatric chronic intestinal pseudo-obstruction

JOURNAL ARTICLE published December 2017 in Orphanet Journal of Rare Diseases

Research funded by Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition (14DZ2272400) | Shanghai Municipal Commission of Health and Family Planning (2013ZYJB0017) | Science and Technology Commission of Shanghai Municipality (14411950400/ 14411950401)

Authors: Jun-Kai Yan | Ke-Jun Zhou | Jian-Hu Huang | Qing-Qing Wu | Tian Zhang | Chao-Chen Wang | Wei Cai

Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study

JOURNAL ARTICLE published December 2019 in Orphanet Journal of Rare Diseases

Research funded by Genzyme (Unresctricted grant)

Authors: Marco Confalonieri | on behalf of AIPO Pneumoloped Group | Michele Vitacca | Raffaele Scala | Mario Polverino | Eugenio Sabato | Grazia Crescimanno | Piero Ceriana | Caterina Antonaglia | Gabriele Siciliano | Nadja Ring | Serena Zacchigna | Francesco Salton | Andrea Vianello

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

JOURNAL ARTICLE published December 2016 in Orphanet Journal of Rare Diseases

Authors: Majid Alfadhel | Mohammed Benmeakel | Mohammad Arif Hossain | Fuad Al Mutairi | Ali Al Othaim | Ahmed A. Alfares | Mohammed Al Balwi | Abdullah Alzaben | Wafaa Eyaid

Accelerating drug development for amyotrophic lateral sclerosis: construction and application of a disease course model using historical placebo group data

JOURNAL ARTICLE published 2 February 2024 in Orphanet Journal of Rare Diseases

Research funded by the National Natural Science Funds of China (82174229) | China national key research and development program (2022YFC3502000) | Shanghai 3-year Action Plan for Inheritance, Innovation, and Development of traditional Chinese Medicine (ZY [2021-2023]-0401)

Authors: Ruifen Cai | Juan Yang | Lijuan Wu | Yixiao Liu | Xinrui Wang | Qingshan Zheng | Lujin Li

Exploring alternative financing models and early access schemes for orphan drugs: a Belgian case study

JOURNAL ARTICLE published 9 December 2022 in Orphanet Journal of Rare Diseases

Research funded by Fonds Wetenschappelijk Onderzoek (G0B9819N)

Authors: Khadidja Abdallah | Kathleen Claes | Isabelle Huys | Lennert Follon | Charlotte Calis | Steven Simoens

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JOURNAL ARTICLE published December 2020 in Orphanet Journal of Rare Diseases

Authors: Anna-Lucia Koerling

Diflunisal compassive use in transthyretin familial amyloidotic polyneuropathy (TTR-FAP): report of the first Spanish experience

JOURNAL ARTICLE published 2015 in Orphanet Journal of Rare Diseases

Authors: Sebastián Contesse | Christopher Cabib | Josep M Campistol

Management of congenital muscular dystrophies related to defects in the LMNA gene

JOURNAL ARTICLE published December 2015 in Orphanet Journal of Rare Diseases

Authors: Susana Quijano-Roy | Adele D'Amico

Empowerment Weekends for young adults

JOURNAL ARTICLE published 2014 in Orphanet Journal of Rare Diseases

Authors: Annette Lemli | Nicole Schwarzer