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Rare endocrinological diseases

The aim of this section is to provide timely access to research on rare inherited endocrine disorders encountered in children and adults. These include congenital disorders (e.g., Congenital adrenal hyperplasia), cancer syndromes (e.g., the multiple endocrine neoplasia syndromes), and endocrine manifestations that stem from inherited metabolic diseases (which are especially likely to be associated with diabetes mellitus, hypogonadism, and adrenal, pituitary, and thyroid dysfunction). We welcome papers describing innovative clinical and basic research on all uncommon endocrine disorders, descriptions of newly defined clinical entities, studies that shed light on gene dysfunction, and reports describing therapeutic management (outcomes, novel strategies, and cost-efficiency analyses).

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  1. Metreleptin, a recombinant analog of human leptin, is an approved therapy, adjunct to diet, to treat the metabolic complications of leptin deficiency in patients with lipodystrophy – a group of rare diseases c...

    Authors: Morey W Haymond, David Araújo-Vilar, John Balser, James H Lewis, Ruth Louzado, Carla Musso, Julia von Schnurbein and Martin Wabitsch
    Citation: Orphanet Journal of Rare Diseases 2023 18:127
    Content type: Research Published on:

  2. X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization.

    Authors: Wanqi Zheng, Ying Duan, Yu Xia, Lili Liang, Zhuwen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Huiwen Zhang, Lianshu Han, Zizhen Gong, Bing Xiao and Wenjuan Qiu
    Citation: Orphanet Journal of Rare Diseases 2023 18:126
    Content type: Research Published on:

  3. Somatropin treatment is indicated in a variety of disorders including growth hormone (GH) deficiency, Prader–Willi and Turner syndrome, chronic renal insufficiency and others. To date, almost all studies have ...

    Authors: Dirk Schnabel, Ilonka Kreitschmann-Andermahr, Christian J. Strasburger, David Pittrow, Christine Pausch and Joachim Woelfle
    Citation: Orphanet Journal of Rare Diseases 2023 18:112
    Content type: Research Published on:

  4. Osteogenesis imperfecta (OI) is a rare, connective tissue disorder characterised by bone fragility, resulting in recurrent fractures and skeletal deformities. Extra-skeletal manifestations include dentinogenes...

    Authors: Darran Mc Donald, Tara Mc Donnell, Julie Martin-Grace, Gerry Mc Manus and Rachel K. Crowley
    Citation: Orphanet Journal of Rare Diseases 2023 18:36
    Content type: Research Published on:

  5. Prader–Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global developmental delay. Although early recombinant human ...

    Authors: Ying Gao, Li-Li Yang, Yang-Li Dai, Zheng Shen, Qiong Zhou and Chao-Chun Zou
    Citation: Orphanet Journal of Rare Diseases 2023 18:25
    Content type: Research Published on:

  7. Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in pa...

    Authors: Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément and Andrea M. Haqq
    Citation: Orphanet Journal of Rare Diseases 2023 18:12
    Content type: Research Published on:

  8. Rare disease research is hampered in part by the fact that patients are geographically dispersed. Rare disease patient communities are recognized for their use of the internet to learn about their condition an...

    Authors: Andrew A. Dwyer, Melissa Uveges, Samantha Dockray and Neil Smith
    Citation: Orphanet Journal of Rare Diseases 2022 17:354
    Content type: Research Published on:

  9. Pituitary stalk interruption syndrome (PSIS) is a rare disease caused by congenital pituitary anatomical defects. The underlying mechanisms remain unclear, and the diagnosis is difficult. Here, integrated meta...

    Authors: Ye Guo, Xiaogang Li, Xi Wang, Haolong Li, Guoju Luo, Yongzhen Si, Xueyan Wu and Yongzhe Li
    Citation: Orphanet Journal of Rare Diseases 2022 17:267
    Content type: Research Published on:

  10. Hyperinsulinism hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1, encoding glutamate dehydrogenase (GDH). Atypical absence seizures and neuropsychological disorders occur at high rates i...

    Authors: Elizabeth Rosenfeld, Ravi Prakash Reddy Nanga, Alfredo Lucas, Andrew Y. Revell, Allison Thomas, Nina H. Thomas, David R. Roalf, Russell T. Shinohara, Ravinder Reddy, Kathryn A. Davis and Diva D. De León
    Citation: Orphanet Journal of Rare Diseases 2022 17:248
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:315

  11. Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical mani...

    Authors: Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui and Zou Chao-Chun
    Citation: Orphanet Journal of Rare Diseases 2022 17:221
    Content type: Review Published on:

  12. To investigate the clinical characteristics of patients with multiple endocrine neoplasia type 1 (MEN1)-related insulinoma and their relationship with specific biochemical changes and to summarize the features...

    Authors: Yuan Zhao, Jie Yu, Yiwen Liu, Lu Lyu, Fan Ping, Lingling Xu, Wei Li, Ou Wang, Qiang Xu, Wenming Wu, Huabing Zhang and Yuxiu Li
    Citation: Orphanet Journal of Rare Diseases 2022 17:219
    Content type: Research Published on:

  13. Thymic neuroendocrine tumors comprise a heterogeneous group of rare diseases. This study aimed to investigate the real-world clinicopathological features and treatment outcomes of thymic neuroendocrine tumors.

    Authors: Yeye Chen, Jiaqi Zhang, Mengxin Zhou, Chao Guo and Shanqing Li
    Citation: Orphanet Journal of Rare Diseases 2022 17:215
    Content type: Research Published on:

  14. In recent years, more studies have observed that patients with Prader–Willi syndrome have lower insulin levels and lower insulin resistance than body mass index-matched controls, which may suggest protected gl...

    Authors: Yanjie Qian, Fangling Xia, Yiming Zuo, Mianling Zhong, Lili Yang, Yonghui Jiang and Chaochun Zou
    Citation: Orphanet Journal of Rare Diseases 2022 17:187
    Content type: Review Published on:

  15. Cushing’s syndrome (CS) is associated with an hypercoagulable state and an increased risk of venous thromboembolism (VTE). Evidence-based guidelines on thromboprophylaxis strategies in patients with CS are cur...

    Authors: F. M. van Haalen, M. Kaya, I. C. M. Pelsma, O. M. Dekkers, N. R. Biermasz, S. C. Cannegieter, M. V. Huisman, B. J. M. van Vlijmen, R. A. Feelders, F. A. Klok and A. M. Pereira
    Citation: Orphanet Journal of Rare Diseases 2022 17:178
    Content type: Research Published on:

  16. Diagnosis of mature-onset diabetes of the young (MODY), a non-autoimmune monogenic form of diabetes mellitus, is confirmed by genetic testing. However, a positive genetic diagnosis is achieved in only around 5...

    Authors: María E. Vázquez-Mosquera, Emiliano González-Vioque, Sofía Barbosa-Gouveia, Diego Bellido-Guerrero, Cristina Tejera-Pérez, Miguel A. Martinez-Olmos, Antía Fernández-Pombo, Luis A. Castaño-González, Roi Chans-Gerpe and María L. Couce
    Citation: Orphanet Journal of Rare Diseases 2022 17:105
    Content type: Research Published on:

  17. GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, a...

    Authors: Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli, Milena Brugnara, Susanne Thiele, Francesca Granata, Giovanna Mantovani and Franco Antoniazzi
    Citation: Orphanet Journal of Rare Diseases 2022 17:83
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:169

  18. Central diabetes insipidus (CDI) is a rare condition, with significant impact on patient health and well-being. It is a chronic condition which usually requires meticulous long-term care. It can affect both ch...

    Authors: H. Teare, J. Argente, M. Dattani, J. Leger, M. Maghnie, M. Sherlock, G.-C. Ali, J. Francombe and S. Marjanovic
    Citation: Orphanet Journal of Rare Diseases 2022 17:58
    Content type: Review Published on:

  19. Individuals with proopiomelanocortin (POMC) or leptin receptor (LEPR) deficiency are young and experience severe obesity, hyperphagia, and comorbidities, which can impair quality of life (QOL).

    Authors: Peter Kühnen, Martin Wabitsch, Julia von Schnurbein, Costel Chirila, Usha G. Mallya, Patrick Callahan, Ari Gnanasakthy, Christine Poitou, Philipp M. Krabusch, Murray Stewart and Karine Clément
    Citation: Orphanet Journal of Rare Diseases 2022 17:38
    Content type: Research Published on:

  20. For chronic congenital endocrine conditions, age at diagnosis is a key issue with implications for optimal management and psychological concerns. These conditions are associated with an increase in the risk of...

    Authors: Wafa Kallali, Claude Messiaen, Roumaisah Saïdi, Soucounda Lessim, Magali Viaud, Jerome Dulon, Mariana Nedelcu, Dinane Samara, Muriel Houang, Bruno Donadille, Carine Courtillot, GianPaolo de Filippo, Jean-Claude Carel, Sophie Christin-Maitre, Philippe Touraine, Irene Netchine…
    Citation: Orphanet Journal of Rare Diseases 2021 16:469
    Content type: Research Published on:

  22. A virilizing ovarian tumor (VOT) is a rare cause of hyperandrogenism in pre- and postmenopausal women. Although transvaginal ultrasound is considered as the first-line imaging method for ovarian tumors, it is ...

    Authors: Mi Zou, Rong Chen, Yahong Wang, Yonglan He, Ying Wang, Yifan Dong and Jianchu Li
    Citation: Orphanet Journal of Rare Diseases 2021 16:426
    Content type: Research Published on:

  23. Hyperinsulinemic hypoglycemia (HI) is the most frequent cause of recurrent hypoglycemia in children. Despite diagnostic and therapeutic advances, it remains an important cause of morbidity, leading to neurolog...

    Authors: Arianna Maiorana, Stefania Caviglia, Benedetta Greco, Paolo Alfieri, Francesca Cumbo, Carmen Campana, Silvia Maria Bernabei, Raffaella Cusmai, Antonella Mosca and Carlo Dionisi-Vici
    Citation: Orphanet Journal of Rare Diseases 2021 16:424
    Content type: Research Published on:

  24. Hypoparathyroidism (HypoPT) or pseudo-hypoparathyroidism (pseudo-HypoPT) during pregnancy may cause maternal and fetal/neonatal complications. In this regard, only a few case reports or case series of pregnant...

    Authors: Gemma Marcucci, Paola Altieri, Salvatore Benvenga, Marta Bondanelli, Valentina Camozzi, Filomena Cetani, Luisella Cianferotti, Mirko Duradoni, Caterina Fossi, Ettore degli Uberti, Fausto Famà, Giovanna Mantovani, Claudio Marcocci, Laura Masi, Uberto Pagotto, Andrea Palermo…
    Citation: Orphanet Journal of Rare Diseases 2021 16:421
    Content type: Research Published on:

  25. 46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is th...

    Authors: Liping Hou, Ming Zhao, Lijun Fan, Bingyan Cao, Jiajia Chen, Yonghua Cui, Michel Polak and Chunxiu Gong
    Citation: Orphanet Journal of Rare Diseases 2021 16:416
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:144

  26. Hereditary Angioedema (HAE) is a genetic disorder that leads to frequent angioedema attacks in various parts of the body. In most cases it is caused by pathogenic variants in the SERPING1 gene, coding for C1-Inhi...

    Authors: Toni M. Förster, Markus Magerl, Marcus Maurer, Selen Zülbahar, Susanne Zielke, Neil Inhaber, Donatello Crocetta, Arndt Rolfs and Volha Skrahina
    Citation: Orphanet Journal of Rare Diseases 2021 16:399
    Content type: Research Published on:

  27. The clinical complications of congenital hypothyroidism such as brain disorders are very subtle and are not recognizable in infancy period. They are recognizable when it is too late for treatment or prevention...

    Authors: Javad Nazari, Kimia Jafari, Maryam Chegini, Akram Maleki, Pari MirShafiei, Ali Alimohammadi, Yasan Kazemzadeh, Reihaneh Mikaeliyan and Saeed Amini
    Citation: Orphanet Journal of Rare Diseases 2021 16:393
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:506

  28. To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chines...

    Authors: Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie and Xueyan Wu
    Citation: Orphanet Journal of Rare Diseases 2021 16:370
    Content type: Research Published on:

  29. Patients with Prader-Willi syndrome (PWS) often have comorbidities, especially obesity, that may constitute a risk factor for severe forms of COVID-19. We aimed to assess prevalence and medical course of SARS-...

    Authors: Muriel Coupaye, Virginie Laurier, Grégoire Benvegnu, Christine Poitou, Pauline Faucher, Héléna Mosbah, Gwenaelle Diene, Graziella Pinto, Laura González Briceño, Christine Merrien, Ana Camarena Toyos, Emilie Montastier, Maithé Tauber and Fabien Mourre
    Citation: Orphanet Journal of Rare Diseases 2021 16:325
    Content type: Research Published on:

  30. Adolescents with idiopathic scoliosis display high ghrelin levels. As hyperghrelinemia is found in patients with PWS and early-onset scoliosis (EOS) is highly prevalent in these patients, our aims were to expl...

    Authors: Dibia Liz Pacoricona Alfaro, Gwenaelle Diene, Graziella Pinto, Jean-Pierre Salles, Isabelle Gennero, Sandy Faye, Catherine Molinas, Marion Valette, Catherine Arnaud and Maithé Tauber
    Citation: Orphanet Journal of Rare Diseases 2021 16:305
    Content type: Research Published on:

  31. Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causin...

    Authors: Gilyazetdinov Kamil, Ju Young Yoon, Sukdong Yoo and Chong Kun Cheon
    Citation: Orphanet Journal of Rare Diseases 2021 16:297
    Content type: Research Published on:

  32. Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and ...

    Authors: Ya-Bing Wang, Ou Wang, Min Nie, Yan Jiang, Mei Li, Wei-Bo Xia and Xiao-Ping Xing
    Citation: Orphanet Journal of Rare Diseases 2021 16:296
    Content type: Research Published on:

  33. Dozens of genes are involved in 46, XY differences in sex development (DSD). Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene variant identified cannot fully explain the cl...

    Authors: Yiping Cheng, Jing Chen, Xinli Zhou, Jiangfei Yang, Yiming Ji and Chao Xu
    Citation: Orphanet Journal of Rare Diseases 2021 16:268
    Content type: Research Published on:

  35. Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction leading to obesity and behavioral disabilities, including eating disorders (EDs). We evaluated the effects of the COVI...

    Authors: Helena Mosbah, Muriel Coupaye, Flavien Jacques, Maithé Tauber, Karine Clément, Jean-Michel Oppert and Christine Poitou
    Citation: Orphanet Journal of Rare Diseases 2021 16:202
    Content type: Research Published on:

  36. The spectrum of disorders associated with hyperinsulinemic hypoglycemia (HHI) has vastly increased over the past 20 years with identification of molecular, metabolic and cellular pathways involved in the regul...

    Authors: Swathi Sethuram, Mark A. Sperling, Jasmine Gujral and Christopher J. Romero
    Citation: Orphanet Journal of Rare Diseases 2021 16:190
    Content type: Research Published on:

  37. Idiopathic Ketotic hypoglycemia (IKH) is a diagnosis of exclusion. Although considered as the most frequent cause of hypoglycemia in childhood, little progress has been made to advance the understanding of IKH...

    Authors: Danielle Drachmann, Erica Hoffmann, Austin Carrigg, Beccie Davis-Yates, Valerie Weaver, Paul Thornton, David A. Weinstein, Jacob S. Petersen, Pratik Shah and Henrik Thybo Christesen
    Citation: Orphanet Journal of Rare Diseases 2021 16:173
    Content type: Review Published on:

  38. Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried...

    Authors: Meijuan Liu, Min Liu, Xuejun Liang, Di Wu, Wenjing Li, Chang Su, Bingyan Cao, Jiajia Chen and Chunxiu Gong
    Citation: Orphanet Journal of Rare Diseases 2021 16:159
    Content type: Research Published on:

  39. Androgen insensitive syndrome (AIS) is a rare genetic disease resulting from androgen receptor (AR) mutations and one of the causes of 46, XY disorder of sexual development (DSD). This study aimed to describe the...

    Authors: Hui Zhu, Haijun Yao, Yue Xu, Yan Chen, Bing Han, Nan Wang, Hao Wang, Qiang Zhang, Wenjiao Zhu, Yuanping Shi, Hua Sun, Shuangxia Zhao, Huaidong Song, Yang Liu and Jie Qiao
    Citation: Orphanet Journal of Rare Diseases 2021 16:122
    Content type: Research Published on:

  40. Enzyme replacement therapy (ERT) with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is being developed to treat patients with ASM deficiency (ASMD), commonly known as Niemann–Pick disease ...

    Authors: Bethanie Garside, Jan Hoong Ho, See Kwok, Yifen Liu, Shaishav Dhage, Rachelle Donn, Zohaib Iqbal, Simon A. Jones and Handrean Soran
    Citation: Orphanet Journal of Rare Diseases 2021 16:107
    Content type: Research Published on:

  41. Prader-Willi syndrome (PWS) is a complex, multi-system, neurodevelopmental disorder characterised by neonatal muscular hypotonia, short stature, high risk of obesity, hypogonadism, intellectual disabilities, d...

    Authors: Charlotte Höybye, Anthony J. Holland and Daniel J. Driscoll
    Citation: Orphanet Journal of Rare Diseases 2021 16:69
    Content type: Letter to the Editor Published on:

  42. MEN1 is a complex, rare, syndrome inherited in an autosomal dominant tract and characterized by the development of multiple neuroendocrine tumors, requiring lifelong surveillance and multiple medical and surgi...

    Authors: Francesca Giusti, Federica Cioppi, Caterina Fossi, Francesca Marini, Laura Masi, Francesco Tonelli and Maria Luisa Brandi
    Citation: Orphanet Journal of Rare Diseases 2021 16:16
    Content type: Research Published on:

  43. The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor (2–5% of all thyroid cancer) derived fr...

    Authors: Berta Luzón-Toro, Leticia Villalba-Benito, Raquel María Fernández, Ana Torroglosa, Guillermo Antiñolo and Salud Borrego
    Citation: Orphanet Journal of Rare Diseases 2021 16:4
    Content type: Letter to the Editor Published on:

  44. Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze pos...

    Authors: Lucy Magill, Constanze Laemmer, Joachim Woelfle, Rolf Fimmers and Bettina Gohlke
    Citation: Orphanet Journal of Rare Diseases 2020 15:283
    Content type: Research Published on:

  45. Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder in which hyperphagia (excessive appetite) is a hallmark feature. Understanding how weight changes over time in this population is important for...

    Authors: Caroline J. Vrana-Diaz, Priya Balasubramanian, Nathalie Kayadjanian, Jessica Bohonowych and Theresa V. Strong
    Citation: Orphanet Journal of Rare Diseases 2020 15:233
    Content type: Research Published on:

  46. In children with Prader-Willi syndrome (PWS), the benefits of growth hormone treatment are well established. Several one-year studies have shown that growth hormone is also beneficial for adults with PWS, impr...

    Authors: Layla Damen, Stephany H. Donze, Renske J. Kuppens, Nienke E. Bakker, Laura C. G. de Graaff, Janielle A. E. M. van der Velden and Anita C. S. Hokken-Koelega
    Citation: Orphanet Journal of Rare Diseases 2020 15:163
    Content type: Research Published on:

  47. Hypoglycaemia due to hyperinsulinism (HI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Cohort outcomes of HI remain to be described and whilst previous follow up studies have focused...

    Authors: Chris Worth, Laila Al Hashmi, Daphne Yau, Maria Salomon-Estebanez, Diego Perez Ruiz, Caroline Hall, Elaine O’Shea, Helen Stokes, Peter Foster, Sarah E. Flanagan, Karen E Cosgrove, Mark J Dunne and Indraneel Banerjee
    Citation: Orphanet Journal of Rare Diseases 2020 15:162
    Content type: Research Published on:

  48. With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disord...

    Authors: Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira and Olaf Hiort
    Citation: Orphanet Journal of Rare Diseases 2020 15:144
    Content type: Review Published on:

  49. Prader-Willi Syndrome (PWS) is the most common genetic cause of obesity. Various dietary strategies have been used for weight management for people with PWS.

    Authors: Grace Felix, Eric Kossoff, Bobbie Barron, Caitlin Krekel, Elizabeth Getzoff Testa and Ann Scheimann
    Citation: Orphanet Journal of Rare Diseases 2020 15:135
    Content type: Research Published on:

  50. Inherited endocrine tumors are neoplasms of endocrine cells, transmitted via autosomal dominant germinal mutations. They present in two different forms: non-syndromic (patient has a single affected endocrine o...

    Authors: Davide Maraghelli, Francesca Giusti, Francesca Marini and Maria Luisa Brandi
    Citation: Orphanet Journal of Rare Diseases 2020 15:102
    Content type: Review Published on:

Orphanet Journal of Rare Diseases

ISSN: 1750-1172