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Rare pulmonary diseases

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  1. Over the past decade, a new class of drugs called CFTR (cystic fibrosis transmembrane conductance regulator) modulators have shown to be able to improve clinical outcomes in patient with Cystic Fibrosis. In th...

    Authors: Enrico Costa, Silvia Girotti, Francesca Pauro, Hubert G. M. Leufkens and Marco Cipolli
    Citation: Orphanet Journal of Rare Diseases 2022 17:188
  2. Birt-Hogg-Dubé syndrome (BHDS) is a rare monogenic condition mostly associated with germline mutations at FLCN. It is characterized by either one or more manifestations of primary spontaneous pneumothorax (PSP), ...

    Authors: Anindita Ray, Esita Chattopadhyay, Richa Singh, Saurabh Ghosh, Arnab Bera, Mridul Sarma, Mahavir Munot, Unnati Desai, Sujeet Rajan, Pralhad Prabhudesai, Ashish K. Prakash, Sushmita Roy Chowdhury, Niladri Bhowmick, Raja Dhar, Zarir F. Udwadia, Atin Dey…
    Citation: Orphanet Journal of Rare Diseases 2022 17:176
  3. In France, the cystic fibrosis (CF) care pathway is coordinated by multidisciplinary teams from specialised CF centres or transplant centres. It includes the care provided at home or out of hospital, risk prev...

    Authors: D. Pougheon Bertrand, A. Fanchini, P. Lombrail, G. Rault, A. Chansard, N. Le Breton, C. Frenod, F. Milon, C. Heymes-Royer, D. Segretain, M. Silber, S. Therouanne, J. Haesebaert, C. Llerena, P. Michel and Q. Reynaud
    Citation: Orphanet Journal of Rare Diseases 2022 17:73
  4. Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is characterized by multifocal proliferation of pulmonary neuroendocrine cells. On chest CT, DIPNECH exhibits bilateral pulmonary nodules ...

    Authors: Bilal F. Samhouri, Chi Wan Koo, Eunhee S. Yi and Jay H. Ryu
    Citation: Orphanet Journal of Rare Diseases 2021 16:490
  5. Patients with lymphangioleiomyomatosis (LAM) frequently experience pneumothorax. Although sirolimus is the standard therapy for LAM, its effect on pneumothorax is controversial. Recently, total pleural coverin...

    Authors: Teiko Sakurai, Toru Arai, Masaki Hirose, Kensuke Kojima, Tetsuki Sakamoto, Yoshinobu Matsuda, Chikatoshi Sugimoto, Hyung-Eun Yoon and Yoshikazu Inoue
    Citation: Orphanet Journal of Rare Diseases 2021 16:466
  6. Pleuroparenchymal fibroelastosis (PPFE) has a variable disease course with dismal prognosis in the majority of patients with no validated drug therapy. This study is to evaluate the effect of nintedanib in pat...

    Authors: Mouhamad Nasser, Salim Si-Mohamed, Ségolène Turquier, Julie Traclet, Kaïs Ahmad, François Philit, Philippe Bonniaud, Lara Chalabreysse, Françoise Thivolet-Béjui and Vincent Cottin
    Citation: Orphanet Journal of Rare Diseases 2021 16:419
  7. Specialized clinical care for cystic fibrosis (CF) in Cyprus, a small island country, has been implemented since the 1990s. However, only recently, a national CF patient registry has been established for the s...

    Authors: Panayiotis K. Yiallouros, Andreas Μ. Matthaiou, Pinelopi Anagnostopoulou, Panayiotis Kouis, Malgorzata Libik, Tonia Adamidi, Adonis Eleftheriou, Artemios Demetriou, Phivos Ioannou, George A. Tanteles, Constantina Costi, Pavlos Fanis, Milan Macek, Vassos Neocleous and Leonidas A. Phylactou
    Citation: Orphanet Journal of Rare Diseases 2021 16:409
  8. Evidence is conflicting regarding differential health outcomes in racial and ethnic minorities with cystic fibrosis (CF), a rare genetic disease affecting approximately 28,000 Americans. We performed a cross-s...

    Authors: Emily DiMango, Kaitlyn Simpson, Elizabeth Menten, Claire Keating, Weijia Fan and Cheng-Shiun Leu
    Citation: Orphanet Journal of Rare Diseases 2021 16:332
  9. Birt–Hogg–Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, ...

    Authors: Elżbieta Radzikowska, Urszula Lechowicz, Jolanta Winek and Lucyna Opoka
    Citation: Orphanet Journal of Rare Diseases 2021 16:302
  10. Bronchoalveolar lavage (BAL) is one of the fundamental examinations for the differential diagnosis of interstitial lung diseases (ILDs), and lymphocytosis strongly indicates alternative diagnoses rather than i...

    Authors: Yasushi Horimasu, Kakuhiro Yamaguchi, Shinjiro Sakamoto, Takeshi Masuda, Shintaro Miyamoto, Taku Nakashima, Hiroshi Iwamoto, Kazunori Fujitaka, Hironobu Hamada and Noboru Hattori
    Citation: Orphanet Journal of Rare Diseases 2021 16:298
  11. Lymphangioleiomyomatosis (LAM) is a rare multisystem disease characterized by cystic lung disease and extrapulmonary manifestations, including lymphatic system disorder. The objective of this study was to inve...

    Authors: Guozhu Hou, Yuanyuan Jiang, Wenshuai Xu, Zhaohui Zhu, Li Huo, Xiaoyuan Chen, Fang Li, Kai-Feng Xu and Wuying Cheng
    Citation: Orphanet Journal of Rare Diseases 2021 16:279
  12. During the COVID-19 pandemic, most of the health care systems suspended their non-urgent activities. This included the cancellation of consultations for patients with rare diseases, such as severe pulmonary hy...

    Authors: Laurent Godinas, Keerthana Iyer, Gergely Meszaros, Rozenn Quarck, Pilar Escribano-Subias, Anton Vonk Noordegraaf, Pavel Jansa, Michele D’Alto, Milan Luknar, Senka Milutinov Ilic, Catharina Belge, Olivier Sitbon, Abílio Reis, Stephan Rosenkranz, Joanna Pepke-Zaba, Marc Humbert…
    Citation: Orphanet Journal of Rare Diseases 2021 16:196
  13. We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years....

    Authors: Brigitte W. M. Willemse, Saskia N. van der Crabben, Wilhelmina S. Kerstjens-Frederikse, Wim Timens, Joris M. van Montfrans, Caroline A. Lindemans, Jaap Jan Boelens, Marije P. Hennus and Gijs van Haaften
    Citation: Orphanet Journal of Rare Diseases 2021 16:137
  14. Lymphangioleiomyomatosis (LAM) is a rare disease that almost exclusively affects women of reproductive age. Patients are warned of the increased risks if they become pregnant. However, information on pregnancy...

    Authors: Lisha Shen, Whenshuai Xu, Jinsong Gao, Jun Wang, Jiannan Huang, Yani Wang, Yudi He, Yanli Yang, Xinlun Tian and Kai-Feng Xu
    Citation: Orphanet Journal of Rare Diseases 2021 16:133
  15. Autoimmune pulmonary alveolar proteinosis (APAP) results from the suppression of granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling by a neutralizing autoantibody against GM-CSF. B cell-activa...

    Authors: Masaki Hirose, Toru Arai, Chikatoshi Sugimoto, Takayuki Takimoto, Reiko Sugawara, Shojiro Minomo, Sayoko Shintani, Naoko Takeuchi, Kanako Katayama, Yasushi Inoue, Tomoko Kagawa, Takahiko Kasai, Masanori Akira and Yoshikazu Inoue
    Citation: Orphanet Journal of Rare Diseases 2021 16:115
  16. Genetic variants of TOLLIP and MUC5B, both on chromosome 11, have been reported to be associated with the development and/or prognosis of idiopathic pulmonary fibrosis (IPF). This retrospective study was condu...

    Authors: Francesco Bonella, Ilaria Campo, Michele Zorzetto, Eda Boerner, Shinichiro Ohshimo, Dirk Theegarten, Christian Taube and Ulrich Costabel
    Citation: Orphanet Journal of Rare Diseases 2021 16:111
  17. Pulmonary large-cell neuroendocrine carcinoma (pLCNEC) is a very rare malignancy originating from the lung and bronchus, and its biological behaviour, clinical diagnosis, treatment and prognosis are poorly und...

    Authors: Yeye Chen, Jiaqi Zhang, Cheng Huang, Zhenhuan Tian, Xiaoyun Zhou, Chao Guo, Hongsheng Liu and Shanqing Li
    Citation: Orphanet Journal of Rare Diseases 2021 16:82
  18. Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an incre...

    Authors: Cormac McCarthy, Emmanuelle Bugnet, Amira Benattia, Michael P. Keane, Benoit Vedie, Gwenaël Lorillon and Abdellatif Tazi
    Citation: Orphanet Journal of Rare Diseases 2021 16:72
  19. Anti-granulocyte–macrophage colony-stimulating factor autoantibody (GMAb) has been recognized as a diagnostic biomarker for autoimmune pulmonary alveolar proteinosis (aPAP). The aims of this study were to know...

    Authors: Kanako Katayama, Masaki Hirose, Toru Arai, Kazuyoshi Hatsuda, Kazunobu Tachibana, Reiko Sugawara, Chikatoshi Sugimoto, Takahiko Kasai, Masanori Akira and Yoshikazu Inoue
    Citation: Orphanet Journal of Rare Diseases 2020 15:272
  20. There are limited data on economic aspects of the genetic variant of chronic obstructive pulmonary disease (COPD) in the context of the more prevalent form of COPD. The objective of this study was to isolate t...

    Authors: Jan Sieluk, Julia F. Slejko, Henry Silverman, Eleanor Perfetto and C. Daniel Mullins
    Citation: Orphanet Journal of Rare Diseases 2020 15:260
  21. Lymphangioleiomyomatosis (LAM) is a rare and progressive cystic lung disease with limited therapeutic options. We retrospectively analyzed the effects of a comprehensive 4-week inpatient pulmonary rehabilitati...

    Authors: Rainer Gloeckl, Christoph Nell, Tessa Schneeberger, Inga Jarosch, Martina Boensch, Henrik Watz, Hubert Wirtz, Tobias Welte, Klaus Kenn and Andreas Rembert Koczulla
    Citation: Orphanet Journal of Rare Diseases 2020 15:255
  22. Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunctio...

    Authors: Ha Trang, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Maria Angeles Garcia-Teresa, Jochen Peters, Johannes Schoeber, Marek Migdal, Agneta Markstrom, Giancarlo Ottonello, Raffaele Piumelli, Maria Helena Estevao, Irena Senecic-Cala, Barbara Gnidovec-Strazisar, Andreas Pfleger, Raquel Porto-Abal…
    Citation: Orphanet Journal of Rare Diseases 2020 15:252
  23. Tuberous sclerosis complex (TSC) is a genetic disorder that cause tumors to form in many organs. These lesions may lead to epilepsy, autism, developmental delay, renal, and pulmonary failure. Loss of function ...

    Authors: Yiyang Lu, Erik Y. Zhang, Jie Liu and Jane J. Yu
    Citation: Orphanet Journal of Rare Diseases 2020 15:209
  24. The purpose of this study was to create a practical CT-based algorithm to differentiate Birt-Hogg-Dubé (BHD) syndrome from other diffuse cystic lung diseases (DCLD).

    Authors: Wenshuai Xu, Zhiyan Xu, Yaping Liu, Yongzhong Zhan, Xin Sui, Ruie Feng, Min Peng, Xue Li, Jun Wang, Shuzhen Meng, Li Wang, Xinlun Tian, Xue Zhang and Kai-Feng Xu
    Citation: Orphanet Journal of Rare Diseases 2020 15:176
  25. Treatment of autoimmune pulmonary alveolar proteinosis (aPAP) by inhaled granulocyte-macrophage colony stimulating factor (GM-CSF) is considered safe and effective. Evidence of benefit from GM-CSG inhalation f...

    Authors: Xinlun Tian, Yanli Yang, Lulu Chen, Xin Sui, Wenshuai Xu, Xue Li, Xiaobei Guo, Lingshan Liu, Yusen Situ, Jun Wang, Yang Zhao, Shuzhen Meng, Wei Song, Yonglong Xiao and Kai-Feng Xu
    Citation: Orphanet Journal of Rare Diseases 2020 15:174
  26. A guide of patient selection for establishing the diagnosis of lymphangioleiomyomatosis (LAM) by transbronchial lung biopsy (TBLB) has not been established, although the pathological confirmation of LAM by lun...

    Authors: Shouichi Okamoto, Kazuhiro Suzuki, Takuo Hayashi, Keiko Muraki, Tetsutaro Nagaoka, Koichi Nishino, Yasuhito Sekimoto, Shinichi Sasaki, Kazuhisa Takahashi and Kuniaki Seyama
    Citation: Orphanet Journal of Rare Diseases 2020 15:125
  27. Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple...

    Authors: C. Daccord, V. Cottin, G. Prévot, Y. Uzunhan, J. F. Mornex, P. Bonniaud, R. Borie, A. Briault, M. A. Collonge-Rame, B. Crestani, G. Devouassoux, O. Freynet, A. Gondouin, P. A. Hauss, C. Khouatra, S. Leroy…
    Citation: Orphanet Journal of Rare Diseases 2020 15:120
  28. Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving t...

    Authors: Mark Brantly, Michael Campos, Angela M. Davis, Jeanine D’Armiento, Kenneth Goodman, Kathi Hanna, Miriam O’Day, John Queenan, Robert Sandhaus, James Stoller, Charlie Strange, Jeffrey Teckman and Adam Wanner
    Citation: Orphanet Journal of Rare Diseases 2020 15:96
  29. To evaluate the effects of yoga on exercise capacity and quality of life in patients with lymphangioleiomyomatosis (LAM), a rare cystic lung disease in women.

    Authors: Xiangfeng Li, Wenshuai Xu, Lu Zhang, Yi Zu, Yu Li, Yanli Yang, Ying Xiang, Yun Xiang, Ling Chen, Wei Liu, Lixia Chen and Kai-Feng Xu
    Citation: Orphanet Journal of Rare Diseases 2020 15:72
  30. Childhood interstitial lung diseases (ILD) (chILD) refer to a rare heterogeneous group of disorders. Global collaborations have been working on the etiologies and classification scheme of chILD. With the devel...

    Authors: Xiaolei Tang, Huimin Li, Hui Liu, Hui Xu, Haiming Yang, Jinrong Liu and Shunying Zhao
    Citation: Orphanet Journal of Rare Diseases 2020 15:25
  31. Genetic testing is proposed for suspected cases of monogenic pulmonary fibrosis, but clinicians and patients need specific information and recommendation about the related diagnosis and management issues. Beca...

    Authors: Raphael Borie, Caroline Kannengiesser, Laurent Gouya, Clairelyne Dupin, Serge Amselem, Ibrahima Ba, Vincent Bunel, Philippe Bonniaud, Diane Bouvry, Aurélie Cazes, Annick Clement, Marie Pierre Debray, Philippe Dieude, Ralph Epaud, Pascale Fanen, Elodie Lainey…
    Citation: Orphanet Journal of Rare Diseases 2019 14:280
  32. Congenital Pulmonary Airway Malformation (CPAM) has an estimated prevalence between 0.87 and 1.02/10,000 live births and little is know about their pathogenesis. To improve our knowledge on these rare malforma...

    Authors: C. Barazzone-Argiroffo, J. Lascano Maillard, I. Vidal, M. L. Bochaton-Piallat, S. Blaskovic, Y. Donati, B. E. Wildhaber, A.-L. Rougemont, C. Delacourt and I. Ruchonnet-Métrailler
    Citation: Orphanet Journal of Rare Diseases 2019 14:272
  33. Pneumothorax may recur during pulmonary Langerhans cell histiocytosis (PLCH) patients’ follow-up and its management is not standardised. The factors associated with pneumothorax recurrence are unknown.

    Authors: Pierre Le Guen, Sylvie Chevret, Emmanuelle Bugnet, Constance de Margerie-Mellon, Gwenaël Lorillon, Agathe Seguin-Givelet, Fanélie Jouenne, Dominique Gossot, Robert Vassallo and Abdellatif Tazi
    Citation: Orphanet Journal of Rare Diseases 2019 14:229
  34. Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and ...

    Authors: Keqiang Liu, Wenshuai Xu, Xinlun Tian, Meng Xiao, Xinyue Zhao, Qianli Zhang, Tao Qu, Jiaxing Song, Yaping Liu, Kai-Feng Xu and Xue Zhang
    Citation: Orphanet Journal of Rare Diseases 2019 14:223
  35. Sirolimus has been confirmed to be effective for lymphangioleiomyomatosis (LAM), a rare multisystem neoplastic disease in women. The long-term effects of sirolimus treatment for LAM, however, are largely unkno...

    Authors: Siqi Hu, Xiuxiu Wu, Wenshuai Xu, Xinlun Tian, Yanli Yang, Shao-Ting Wang, Song Liu, Xingxiang Xu and Kai-Feng Xu
    Citation: Orphanet Journal of Rare Diseases 2019 14:206
  36. Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction and can sometimes lead to a highly aggressive form of pulmonary fibrosis...

    Authors: Ross Summer, Rachana Krishna, DeLeila Schriner, Karina Cuevas-Mora, Dominic Sales, Rachel Para, Jesse Roman, Carl Nieweld, Bernadette R. Gochuico and Freddy Romero
    Citation: Orphanet Journal of Rare Diseases 2019 14:162
  37. Primary Ciliary Dyskinesia (PCD) diagnosis relies on a combination of tests which may include (a) nasal Nitric Oxide (nNO), (b) High Speed Video Microscopy (HSVM) and (c) Transmission Electron Microscopy (TEM)...

    Authors: Panayiotis Kouis, Stefania I. Papatheodorou, Nicos Middleton, George Giallouros, Kyriacos Kyriacou, Joshua T. Cohen, John S. Evans and Panayiotis K. Yiallouros
    Citation: Orphanet Journal of Rare Diseases 2019 14:142
  38. Endostatin is a naturally occurring collagen fragment with anti-angiogenic properties. We investigated the association between serum endostatin levels and DLCO in a cohort of patients with lymphangioleiomyomat...

    Authors: Anthony M. Lamattina, Sergio Poli, Pranav Kidambi, Shefali Bagwe, Andrew Courtwright, Pierce H. Louis, Shikshya Shrestha, Benjamin Stump, Hilary J. Goldberg, Elizabeth A. Thiele, Ivan Rosas, Elizabeth P. Henske and Souheil El-Chemaly
    Citation: Orphanet Journal of Rare Diseases 2019 14:72
  39. Primary pulmonary lymphoma (PPL) is a rare disease, especially in children. We analyse the clinical features of PPL in 4 children to strengthen a understanding of it.

    Authors: Xiaohui Wu, Chunju Zhou, Ling Jin, Hui Liu, Jinrong Liu and Shunying Zhao
    Citation: Orphanet Journal of Rare Diseases 2019 14:35
  40. Cystic fibrosis (CF) is a rare disease most commonly seen in Caucasians. Only a few Chinese CF patients have been described in literature, taking into account the large population of China. In this systematic ...

    Authors: Xiaobei Guo, Keqiang Liu, Yaping Liu, Yusen Situ, Xinlun Tian, Kai-Feng Xu and Xue Zhang
    Citation: Orphanet Journal of Rare Diseases 2018 13:224
  41. Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of women characterized by multiple lung cysts leading to respiratory insufficiency and frequent pneumothorax (PT). Air travel (AT) could increase the ...

    Authors: Cynthia Gonano, Jérôme Pasquier, Cécile Daccord, Simon R. Johnson, Sergio Harari, Violette Leclerc, Lucy Falconer, Eleonora Miano, Jean-François Cordier, Vincent Cottin and Romain Lazor
    Citation: Orphanet Journal of Rare Diseases 2018 13:222
  42. Lymphangioleiomyomatosis is a rare disease caused by unregulated activation of mammalian target of rapamycin (mTOR) signalling pathway. Sirolimus showed efficacy in a phase 3 trial of patients with lymphangiol...

    Authors: Hee-Young Yoon, Jung Jin Hwang, Dong Soon Kim and Jin Woo Song
    Citation: Orphanet Journal of Rare Diseases 2018 13:204
  43. Lymphangioleiomyomatosis (LAM) and connective tissue diseases (CTDs) occur more frequently among women than men. We investigated the frequency of comorbid CTD and positive serum autoantibody findings in patien...

    Authors: Shinji Futami, Toru Arai, Masaki Hirose, Chikatoshi Sugimoto, Naoya Ikegami, Masanori Akira, Takahiko Kasai, Masanori Kitaichi, Seiji Hayashi and Yoshikazu Inoue
    Citation: Orphanet Journal of Rare Diseases 2018 13:182
  44. Pneumothorax is one of the most common symptoms in patients with lymphangioleiomyomatosis (LAM). However, current management strategies for patients with LAM who present with recurrent pneumothorax remain inad...

    Authors: Li Zhou, Ruoyun Ouyang, Hong Luo, Siying Ren, Ping Chen, Yating Peng, Ting Liu and Guiqian Liu
    Citation: Orphanet Journal of Rare Diseases 2018 13:168
  45. Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated ...

    Authors: Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck and Philippe Joly
    Citation: Orphanet Journal of Rare Diseases 2018 13:161
  46. Lymphangioleiomyomatosis (LAM) is a rare lung disease and the mammalian target of the rapamycin (mTOR) inhibitors has been used as an effective therapy. Here we conducted a systematic review and meta-analysis ...

    Authors: Nannan Gao, Tengyue Zhang, Jiadong Ji, Kai-Feng Xu and Xinlun Tian
    Citation: Orphanet Journal of Rare Diseases 2018 13:134
  47. Pulmonary alveolar proteinosis (PAP) is a rare syndrome of alveolar surfactant accumulation, resulting hypoxemic respiratory failure, and increased infection risk. Despite advances in our understanding of dise...

    Authors: Cormac McCarthy, Ruzan Avetisyan, Brenna C. Carey, Claudia Chalk and Bruce C. Trapnell
    Citation: Orphanet Journal of Rare Diseases 2018 13:129
  48. Birt-Hogg-Dubé syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with lymphangioleiomyomatosis (LAM), the pu...

    Authors: Teruaki Mizobuchi, Masatoshi Kurihara, Hiroki Ebana, Sumitaka Yamanaka, Hideyuki Kataoka, Shouichi Okamoto, Etsuko Kobayashi, Toshio Kumasaka and Kuniaki Seyama
    Citation: Orphanet Journal of Rare Diseases 2018 13:78
  49. Pulmonary hemosiderosis is a rare and complex disease in children. A previous study from the French RespiRare® network led to two important findings: 20% of the children presented with both pulmonary hemosider...

    Authors: Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, Marc Lubrano Lavadera, Pierrick Cros, Isabelle Gibertini, Jocelyne Derelle, Antoine Deschildre, Caroline Thumerelle, Ralph Epaud, Philippe Reix, Michael Fayon, Sylvie Roullaud, Françoise Troussier…
    Citation: Orphanet Journal of Rare Diseases 2018 13:60