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Rare pulmonary diseases

  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. We investigated the feasibility of using an online registry to provide prevalence data for multiple orphan lung diseases in Australia and New Zealand.

    Authors: K. Casamento, A. Laverty, M. Wilsher, J. Twiss, E. Gabbay, I. Glaspole and A. Jaffe

    Citation: Orphanet Journal of Rare Diseases 2016 11:42

    Content type: Research

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  34. An important objective on diagnosis of patients with Langerhans cell histiocytosis (LCH) is to determine the extent of disease. However, whether systematic extrathoracic investigation is needed in adult patien...

    Authors: Abdellatif Tazi, Constance de Margerie-Mellon, Laetitia Vercellino, Jean Marc Naccache, Stéphanie Fry, Stéphane Dominique, Stéphane Jouneau, Gwenaël Lorillon, Emmanuelle Bugnet, Raphael Chiron, Benoit Wallaert, Dominique Valeyre and Sylvie Chevret

    Citation: Orphanet Journal of Rare Diseases 2016 11:11

    Content type: Research

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  35. Aim of this study was to verify a systematic and practical categorization system that allows dynamic classification of pediatric DPLD irrespective of completeness of patient data.

    Authors: Matthias Griese, Armin Irnstetter, Meike Hengst, Helen Burmester, Felicitas Nagel, Jan Ripper, Maria Feilcke, Ingo Pawlita, Florian Gothe, Matthias Kappler, Andrea Schams, Traudl Wesselak, Daniela Rauch, Thomas Wittmann, Peter Lohse, Frank Brasch…

    Citation: Orphanet Journal of Rare Diseases 2015 10:122

    Content type: Research

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  36. Idiopathic pulmonary hemosiderosis (IPH) is a rare disorder of unknown etiology characterized by chronic pulmonary hemorrhage and presents with a triad of anemia, hemoptysis and pulmonary infiltrates. IPH is a...

    Authors: Chana I.C. Chin, Shirleen Loloyan Kohn, Thomas G. Keens, Monique F. Margetis and Roberta M. Kato

    Citation: Orphanet Journal of Rare Diseases 2015 10:98

    Content type: Research

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  37. Central hypoventilation syndromes (CHS) are rare diseases of central autonomic respiratory control associated with autonomous nervous dysfunction. Severe central hypoventilation is the hallmark and the most li...

    Authors: Ha Trang, Jean-François Brunet, Hermann Rohrer, Jorge Gallego, Jeanne Amiel, Tiziana Bachetti, Kenneth H Fischbeck, Thomas Similowski, Christian Straus, Isabella Ceccherini, Debra E Weese-Mayer, Matthias Frerick, Katarzyna Bieganowska, Linda Middleton, Francesco Morandi and Giancarlo Ottonello

    Citation: Orphanet Journal of Rare Diseases 2014 9:194

    Content type: Review

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  38. Pulmonary Langerhans cell histiocytosis (PLCH) is a rare disorder characterised by granulomatous proliferation of CD1a-positive histiocytes forming granulomas within lung parenchyma, in strong association with...

    Authors: Vincent Grobost, Chahera Khouatra, Romain Lazor, Jean-François Cordier and Vincent Cottin

    Citation: Orphanet Journal of Rare Diseases 2014 9:191

    Content type: Research

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  39. Alpha-1 antitrypsin (AAT) is the most abundant circulating antiprotease and is a member of the serine protease inhibitor (SERPIN) superfamily. The gene encoding AAT is the highly polymorphic SERPINA1 gene, found ...

    Authors: Ilaria Ferrarotti, Tomás P Carroll, Stefania Ottaviani, Anna M Fra, Geraldine O’Brien, Kevin Molloy, Luciano Corda, Daniela Medicina, David R Curran, Noel G McElvaney and Maurizio Luisetti

    Citation: Orphanet Journal of Rare Diseases 2014 9:172

    Content type: Research

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  40. Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide.

    Authors: Jenna Hildebrandt, Ebru Yalcin, Hans-Georg Bresser, Guzin Cinel, Monika Gappa, Alireza Haghighi, Nural Kiper, Soheila Khalilzadeh, Karl Reiter, John Sayer, Nicolaus Schwerk, Anke Sibbersen, Sabine Van Daele, Georg Nübling, Peter Lohse and Matthias Griese

    Citation: Orphanet Journal of Rare Diseases 2014 9:171

    Content type: Research

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  41. LAM is a rare disease of women categorised by lung cysts and lymphatic abnormalities. The disease occurs sporadically or associated with Tuberous Sclerosis Complex (TSC-LAM). Angiomyolipoma, a benign tumour, p...

    Authors: Zhao W Yeoh, Vidya Navaratnam, Rupesh Bhatt, Ian McCafferty, Richard B Hubbard and Simon R Johnson

    Citation: Orphanet Journal of Rare Diseases 2014 9:151

    Content type: Research

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172