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Rare pulmonary diseases

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  1. Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive lung disease caused by variants in the SLC34A2 gene encoding the sodium-dependent phosphate transport protein 2B, NaPi-2b. PAM is characterize...

    Authors: Åsa Lina M. Jönsson, Ole Hilberg, Ulf Simonsen, Jane Hvarregaard Christensen and Elisabeth Bendstrup
    Citation: Orphanet Journal of Rare Diseases 2023 18:130
  2. Pulmonary arteriovenous malformations (PAVMs), particularly where feeding artery/arteries to PAVMs ≥ 3 mm can be treated with embolization. The treatment for hypoxemia resulting from multiple small or diffuse ...

    Authors: Jinrong Liu, Xiaomin Duan, Jie Yin, Haiming Yang, Ruxuan He and Shunying Zhao
    Citation: Orphanet Journal of Rare Diseases 2023 18:124
  3. The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic disease (sHTAD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Eh...

    Authors: Gry Velvin, Heidi Johansen, Amy Østertun-Geirdal and Trine Bathen
    Citation: Orphanet Journal of Rare Diseases 2023 18:119
  4. The pathogenic variants responsible for Birt-Hogg-Dubé syndrome (BHDS) in folliculin (FLCN) gene mostly consist of point mutations. Although large intragenic deletions/duplications have been reported in several c...

    Authors: Yue Wang, Mengru Cai, Xianliang Jiang, Guangyu Lv, Daiju Hu, Guofeng Zhang, Jinli Liu, Wei Wei, Jun Xiao, Bing Shen, Jay H. Ryu and Xiaowen Hu
    Citation: Orphanet Journal of Rare Diseases 2023 18:115
  5. Whole lung lavage (WLL) has been recognized as the most effective therapy of severe pulmonary alveolar proteinosis (PAP). Most centers perform the lavage of each lung in two sessions under general anesthesia a...

    Authors: Xiaohan Xu, Huanrong Qiu, Fei Chen, Yuelun Zhang, Xinlun Tian, Yongjian Liu, Ping Wang, Bo Zhu and Yuguang Huang
    Citation: Orphanet Journal of Rare Diseases 2023 18:91
  6. Cystic fibrosis (CF) is the most common genetic disease in the Caucasion population. Thanks to the CFTR modulators therapy, life expectancy will significantly improve. New therapeutic challenges can be expecte...

    Authors: Nela Stastna, Kristian Brat, Lukas Homola, Audun Os and Dagmar Brancikova
    Citation: Orphanet Journal of Rare Diseases 2023 18:62
  7. Pulmonary lymphangiomyomatosis (PLAM) is a rare interstitial lung disease characterized by diffuse cystic changes caused by the destructive proliferation of smooth muscle-like cells or LAM cells. PLAM is more ...

    Authors: Yahong Shi, Chuqiao Jiao, Xi Lu, Yifeng Nie, Xiang Li and Dong Han
    Citation: Orphanet Journal of Rare Diseases 2022 17:349
  8. No results of controlled trials are available for any of the few treatments offered to children with interstitial lung diseases (chILD). We evaluated hydroxychloroquine (HCQ) in a phase 2, prospective, multice...

    Authors: Matthias Griese, Matthias Kappler, Florian Stehling, Johannes Schulze, Winfried Baden, Cordula Koerner-Rettberg, Julia Carlens, Freerk Prenzel, Lutz Nährlich, Andreas Thalmeier, Daniela Sebah, Kai Kronfeld, Hans Rock, Christian Ruckes, Martin Wetzke, Elias Seidl…
    Citation: Orphanet Journal of Rare Diseases 2022 17:289
  9. Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. However, data about...

    Authors: Bo Peng, Yong-hua Gao, Jia-qi Xie, Xiao-wen He, Cong-cong Wang, Jin-fu Xu and Guo-jun Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:283
  10. Spontaneous pneumothorax has a high incidence and high rate of recurrence in patients with lymphangioleiomyomatosis (LAM). The risk factors for pneumothorax and the effects of sirolimus on pneumothorax in pati...

    Authors: Chongsheng Cheng, Wenshuai Xu, Yani Wang, Tengyue Zhang, Luning Yang, Wangji Zhou, Danjing Hu, Yanli Yang, Xinlun Tian and Kai-Feng Xu
    Citation: Orphanet Journal of Rare Diseases 2022 17:257
  11. Meta-analysis was used to evaluate the diagnostic value of a CVR cut-off value of 1.6 for fetal hydrops due to congenital lung malformation (CLM).

    Authors: Pei Zhu, Kaisheng Cheng, Mingsheng He, Yutong Wang, Pengyue Shen, Kanglin He, Chang Xu, Ben Zhang and Zhenmi Liu
    Citation: Orphanet Journal of Rare Diseases 2022 17:213
  12. Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dubé syndrome (BHDS) encountered at a Rare Lung Disease Clinic recently established in 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 17:203

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:312

  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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
  46. 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
  47. 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
  48. 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
  49. 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