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Rare pulmonary diseases

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  1. 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

    Content type: Research

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  2. 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

    Content type: Letter to the Editor

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  3. 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

    Content type: Research

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  4. 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

    Content type: Research

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  5. 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

    Content type: Research

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  6. 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

    Content type: Research

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  7. 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

    Content type: Letter to the Editor

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  8. 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

    Content type: Research

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  9. 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

    Content type: Research

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  10. 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

    Content type: Letter to the Editor

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  11. 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

    Content type: Review

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  12. 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

    Content type: Research

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  13. 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

    Content type: Research

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  14. 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

    Content type: Research

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  15. 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

    Content type: Research

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  16. 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

    Content type: Research

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  17. 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

    Content type: Review

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  18. 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

    Content type: Research

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  19. 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

    Content type: Research

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  20. 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

    Content type: Research

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  21. 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

    Content type: Research

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  22. 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

    Content type: Research

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  23. 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

    Content type: Research

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  24. 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

    Content type: Research

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  25. 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

    Content type: Research

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  26. 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

    Content type: Research

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  27. 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

    Content type: Letter to the Editor

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  28. 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

    Content type: Research

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  29. 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

    Content type: Review

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  30. 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

    Content type: Research

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  31. 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

    Content type: Research

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  32. 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

    Content type: Research

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  33. 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

    Content type: Letter to the Editor

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  34. 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

    Content type: Letter to the Editor

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  35. 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

    Content type: Research

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  36. 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

    Content type: Letter to the Editor

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  37. 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

    Content type: Research

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  38. 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

    Content type: Research

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  39. Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the prese...

    Authors: Meike Hengst, Lutz Naehrlich, Poornima Mahavadi, Joerg Grosse-Onnebrink, Suzanne Terheggen-Lagro, Lars Høsøien Skanke, Luise A. Schuch, Frank Brasch, Andreas Guenther, Simone Reu, Julia Ley-Zaporozhan and Matthias Griese

    Citation: Orphanet Journal of Rare Diseases 2018 13:42

    Content type: Research

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  40. Sirolimus has been shown to be effective in patients with lymphangioleiomyomatosis (LAM). We wish to summarize our experience using sirolimus and its effectiveness in LAM patients.

    Authors: Yongzhong Zhan, Lisha Shen, Wenshuai Xu, Xiuxiu Wu, Weihong Zhang, Jun Wang, Xue Li, Yanli Yang, Xinlun Tian and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2018 13:34

    Content type: Research

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  42. Childhood interstitial lung disease (chILD) represents a rare heterogeneous group of respiratory disorders. In the absence of randomized controlled clinical trials, global collaborations have utilized case ser...

    Authors: Vishal Saddi, Sean Beggs, Bruce Bennetts, Joanne Harrison, Neil Hime, Nitin Kapur, Jill Lipsett, Lawrence M. Nogee, Amy Phu, Sadasivam Suresh, André Schultz, Hiran Selvadurai, Stephanie Sherrard, Roxanne Strachan, Julian Vyas, Yvonne Zurynski…

    Citation: Orphanet Journal of Rare Diseases 2017 12:133

    Content type: Research

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  43. Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for B...

    Authors: Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu and Xue Zhang

    Citation: Orphanet Journal of Rare Diseases 2017 12:104

    Content type: Research

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  44. Lymphangioleiomyomatosis (LAM) is included within group 5 of the current PH classification (unclear multifactorial mechanisms). However, data regarding the occurrence of PH in LAM are scarce. The aims of the s...

    Authors: Carolina S. G. Freitas, Bruno G. Baldi, Carlos Jardim, Mariana S. Araujo, Juliana Barbosa Sobral, Gláucia I. Heiden, Ronaldo A. Kairalla, Rogério Souza and Carlos R. R. Carvalho

    Citation: Orphanet Journal of Rare Diseases 2017 12:74

    Content type: Research

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  45. Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most com...

    Authors: Jinrong Liu, Yun Peng, Nan Zhou, Xiaorong Liu, Qun Meng, Hui Xu and Shunying Zhao

    Citation: Orphanet Journal of Rare Diseases 2017 12:58

    Content type: Letter to the Editor

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  46. Whole lung lavage (WLL) is the current standard of care treatment for patients affected by pulmonary alveolar proteinosis (PAP). However, WLL is not standardized and international consensus documents are lacking.

    Authors: Ilaria Campo, Maurizio Luisetti, Matthias Griese, Bruce C. Trapnell, Francesco Bonella, Jan Grutters, Koh Nakata, Coline H. M. Van Moorsel, Ulrich Costabel, Vincent Cottin, Toshio Ichiwata, Yoshikazu Inoue, Antonio Braschi, Giacomo Bonizzoni, Giorgio A. Iotti, Carmine Tinelli…

    Citation: Orphanet Journal of Rare Diseases 2016 11:115

    Content type: Research

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  47. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare disease with a high mortality rate. Although nocturnal hypoventilation (NH) is central to ROHHA...

    Authors: Diana Reppucci, Jill Hamilton, E Ann Yeh, Sherri Katz, Suhail Al-Saleh and Indra Narang

    Citation: Orphanet Journal of Rare Diseases 2016 11:106

    Content type: Research

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  48. Alpha-1-antitrypsin deficiency (AATD) is an autosomal codominant inherited disease that is significantly underdiagnosed. We have previously shown that the combination of an awareness campaign with the offer of...

    Authors: Timm Greulich, Christoph Nell, Christian Herr, Claus Vogelmeier, Viktor Kotke, Stefan Wiedmann, Marion Wencker, Robert Bals and Andreas Rembert Koczulla

    Citation: Orphanet Journal of Rare Diseases 2016 11:75

    Content type: Research

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  49. Gorham-Stout disease (OMIM 123880) and generalized lymphatic anomaly are two rare disorders of lymphendothelial growth in which thoracic involvement with chylothorax is a feared complication. Currently it is b...

    Authors: Michiko Mori, Michael Dictor, Nicholas Brodszki, Juan Carlos López-Gutiérrez, María Beato, Jonas S. Erjefält and Erik A. Eklund

    Citation: Orphanet Journal of Rare Diseases 2016 11:67

    Content type: Research

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  50. KL-6, a human MUC1 mucin, is a sensitive biomarker for interstitial lung diseases including pulmonary alveolar proteinosis (PAP). A correlation between MUC1 gene single nucleotide polymorphism (SNP) rs4072037 ...

    Authors: Francesco Bonella, Xiaoping Long, Shinichiro Ohshimo, Yasushi Horimasu, Matthias Griese, Josune Guzman, Nobuoki Kohno and Ulrich Costabel

    Citation: Orphanet Journal of Rare Diseases 2016 11:48

    Content type: Research

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172

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