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  1. Macrophages play a significant role in liver disease development and progression. The macrophage activation marker soluble (s)CD163 is associated with severity and prognosis in a number of different acute and ...

    Authors: Emilie Glavind, Daniel N. Gotthardt, Jan Pfeiffenberger, Thomas Damgaard Sandahl, Teodora Bashlekova, Gro Linno Willemoe, Jane Preuss Hasselby, Karl Heinz Weiss, Holger Jon Møller, Hendrik Vilstrup, William M. Lee, Michael L. Schilsky, Peter Ott and Henning Grønbæk

    Citation: Orphanet Journal of Rare Diseases 2020 15:173

    Content type: Research

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  2. X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activ...

    Authors: Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala and Zulf Mughal

    Citation: Orphanet Journal of Rare Diseases 2020 15:172

    Content type: Research

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  3. Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.

    Authors: A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani…

    Citation: Orphanet Journal of Rare Diseases 2020 15:171

    Content type: Review

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  4. Fanconi anemia is a rare disease clinically characterized by malformations, bone marrow failure and an increased risk of solid tumors and hematologic malignancies. The only therapies available are hematopoieti...

    Authors: Helena Montanuy, Cristina Camps-Fajol, Jordi Carreras-Puigvert, Maria Häggblad, Bo Lundgren, Miriam Aza-Carmona, Thomas Helleday, Jordi Minguillón and Jordi Surrallés

    Citation: Orphanet Journal of Rare Diseases 2020 15:170

    Content type: Research

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  5. The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics.

    Authors: Inés Gómez-Acebo, Sara Rodríguez Prado, Ángel De La Mora, Roberto Zarrabeitia Puente, Beatriz de la Roza Varela, Trinidad Dierssen-Sotos and Javier Llorca

    Citation: Orphanet Journal of Rare Diseases 2020 15:168

    Content type: Research

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  7. Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results i...

    Authors: Ibrahim Kalle Kwaifa, Mei I. Lai and Sabariah Md Noor

    Citation: Orphanet Journal of Rare Diseases 2020 15:166

    Content type: Review

    Published on:

  8. Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion be...

    Authors: Omer F. Eker, Edoardo Boccardi, Ulrich Sure, Maneesh C. Patel, Saverio Alicante, Ali Alsafi, Nicola Coote, Freya Droege, Olivier Dupuis, Annette Dam Fialla, Bryony Jones, Ujwal Kariholu, Anette D. Kjeldsen, David Lefroy, Gennaro M. Lenato, Hans Jurgen Mager…

    Citation: Orphanet Journal of Rare Diseases 2020 15:165

    Content type: Position statement

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  9. Hirschsprung’s disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding ...

    Authors: Kristiina Kyrklund, Cornelius E. J. Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti-Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean-Pierre Hugot, Célia Crétolle…

    Citation: Orphanet Journal of Rare Diseases 2020 15:164

    Content type: Position statement

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  10. 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

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  11. 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

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  12. Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single ...

    Authors: Klane K. White, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre and Ravi Savarirayan

    Citation: Orphanet Journal of Rare Diseases 2020 15:161

    Content type: Research

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  13. Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD vari...

    Authors: Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino and Lee-Jun C. Wong

    Citation: Orphanet Journal of Rare Diseases 2020 15:160

    Content type: Research

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  14. As lack of awareness of rare diseases (RDs) among healthcare professionals results in delayed diagnoses, there is a need for a more efficient approach to RD training during academic education. We designed an e...

    Authors: S. Sanges, M.-M. Farhat, M. Assaraf, J. Galland, E. Rivière, C. Roubille, M. Lambert, C. Yelnik, H. Maillard, V. Sobanski, G. Lefèvre, D. Launay, S. Morell-Dubois and E. Hachulla

    Citation: Orphanet Journal of Rare Diseases 2020 15:159

    Content type: Review

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  15. Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD...

    Authors: Amy S. Paller, John Browning, Milos Nikolic, Christine Bodemer, Dedee F. Murrell, Willistine Lenon, Eva Krusinska, Allen Reha, Hjalmar Lagast and Jay A. Barth

    Citation: Orphanet Journal of Rare Diseases 2020 15:158

    Content type: Research

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  16. Inherited heart disease represent a very heterogenous group of cardiac disorders, characterized by inherited, acquired, and often rare disorders affecting the heart muscle (cardiomyopathies) or the cardiac ele...

    Authors: Giuseppe Limongelli and Lia Crotti

    Citation: Orphanet Journal of Rare Diseases 2020 15:157

    Content type: Letter to the Editor

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  17. In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal sy...

    Authors: Alessandro Di Toro, Nupoor Narula, Lorenzo Giuliani, Monica Concardi, Alexandra Smirnova, Valentina Favalli, Mario Urtis, Costanza Alvisi, Elena Antoniazzi and Eloisa Arbustini

    Citation: Orphanet Journal of Rare Diseases 2020 15:156

    Content type: Letter to the Editor

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  18. Currarino syndrome (CS) is a specific complex of congenital caudal anomalies, including anorectal malformations, presacral mass and sacral anomalies. Mutations in the MNX1 gene are closely related to CS and occur...

    Authors: Lu Han, Zhen Zhang, Hui Wang, Hui Song, Qing Gao, Yuchun Yan, Ran Tao, Ping Xiao, Long Li, Qian Jiang and Qi Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:155

    Content type: Research

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  19. Patients with isolated methylmalonic acidemia (MMA) usually experience recurrent episodes of acute metabolic decompensation or metabolic stroke, require frequent hospitalization, and have a relatively high mor...

    Authors: Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Li-Ying Sun, Hai-Bo Wang and Zhi-Jun Zhu

    Citation: Orphanet Journal of Rare Diseases 2020 15:154

    Content type: Research

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  20. Extra-pelvic intravenous leiomyomatosis (IVL) extending into inferior vena cava (IVC) or heart (i.e. intracardiac leiomyomatosis, ICL) is an extremely rare benign disease. No consensus has been reached on the ...

    Authors: Hua Li, Jing Xu, Qiaowei Lin, Yong Zhang, Yun Zhao, Hanxing Tong, Ruiqin Tu, Demin Xu, Chunsheng Wang and Weiqi Lu

    Citation: Orphanet Journal of Rare Diseases 2020 15:153

    Content type: Research

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  21. Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointesti...

    Authors: Kimberly Goodspeed, Geraldine Bliss and Diane Linnehan

    Citation: Orphanet Journal of Rare Diseases 2020 15:152

    Content type: Research

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  22. Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschspr...

    Authors: Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi…

    Citation: Orphanet Journal of Rare Diseases 2020 15:151

    Content type: Research

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  23. Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The clinical features and mutation spectrum of CF ...

    Authors: Keqiang Liu, Wenshuai Xu, Meng Xiao, Xinyue Zhao, Chun Bian, Qianli Zhang, Jiaxing Song, Keqi Chen, Xinlun Tian, Yaping Liu, Kai-Feng Xu and Xue Zhang

    Citation: Orphanet Journal of Rare Diseases 2020 15:150

    Content type: Research

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  24. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Consequently, patients undergo a multidisciplinary treatment that often requires intensive use of medical resources. This study provid...

    Authors: Erik Schönfelder, Alma Osmanovic, Lars Hendrik Müschen, Susanne Petri and Olivia Schreiber-Katz

    Citation: Orphanet Journal of Rare Diseases 2020 15:149

    Content type: Research

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  25. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in F...

    Authors: Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier…

    Citation: Orphanet Journal of Rare Diseases 2020 15:148

    Content type: Research

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  26. Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions.

    Authors: Qian Lu, Xiu-Yu Shi, Yang-Yang Wang, Meng-Na Zhang, Wen-Ze Wang, Jing Wang, Qiu-Hong Wang, Hui-Min Chen and Li-Ping Zou

    Citation: Orphanet Journal of Rare Diseases 2020 15:147

    Content type: Research

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  27. Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about h...

    Authors: Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield and Robert Hoehndorf

    Citation: Orphanet Journal of Rare Diseases 2020 15:146

    Content type: Research

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  28. Emerging machine learning technologies are beginning to transform medicine and healthcare and could also improve the diagnosis and treatment of rare diseases. Currently, there are no systematic reviews that in...

    Authors: Julia Schaefer, Moritz Lehne, Josef Schepers, Fabian Prasser and Sylvia Thun

    Citation: Orphanet Journal of Rare Diseases 2020 15:145

    Content type: Review

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  29. 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

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  30. Late onset Pompe disease (LOPD) is a lysosomal neuromuscular disorder which can progressively impair the patients’ exercise tolerance, motor and respiratory functions, and quality of life. The available enzyme...

    Authors: Annalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, Rita Frangiamore, Ramona De Amicis, Mauro Marzorati, Simone Porcelli, Annarita Tullio, Anna Bacco, Simona Bertoli, Andrea Dardis, Lea Biasutti, Maria Barbara Pasanisi, Grazia Devigili and Bruno Bembi

    Citation: Orphanet Journal of Rare Diseases 2020 15:143

    Content type: Research

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  31. Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence o...

    Authors: Jemima E. Mellerio, Maya El Hachem, Nathalia Bellon, Giovanna Zambruno, Hana Buckova, Rudolf Autrata, Carmen Salavastru, Tamara Caldaro, Celine Greco, Cristina Has and Christine Bodemer

    Citation: Orphanet Journal of Rare Diseases 2020 15:142

    Content type: Review

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  32. Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available. This study aimed to es...

    Authors: Salvatore Crisafulli, Janet Sultana, Andrea Fontana, Francesco Salvo, Sonia Messina and Gianluca Trifirò

    Citation: Orphanet Journal of Rare Diseases 2020 15:141

    Content type: Review

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  33. Thoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal surgical intervention has never been published in patients with this rare d...

    Authors: Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, Pauline Hensman and Neil Oxborrow

    Citation: Orphanet Journal of Rare Diseases 2020 15:140

    Content type: Research

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  34. Alström syndrome (ALMS) is a rare ciliopathy characterised by early onset insulin resistance, obesity, and dyslipidaemia and is a model for diseases that have huge social, health and economic impact. Cardiomyo...

    Authors: Shanat Baig, Rory Dowd, Nicola C. Edwards, James Hodson, Larissa Fabritz, Ravi Vijapurapu, Boyang Liu, Tarekegn Geberhiwot and Richard P. Steeds

    Citation: Orphanet Journal of Rare Diseases 2020 15:139

    Content type: Research

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  35. Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are dete...

    Authors: Rosario Sánchez-Martínez, Adriana Iriarte, José María Mora-Luján, José Luis Patier, Daniel López-Wolf, Ana Ojeda, Miguel Angel Torralba, María Coloma Juyol, Ricardo Gil, Sol Añón, Joel Salazar-Mendiguchía and Antoni Riera-Mestre

    Citation: Orphanet Journal of Rare Diseases 2020 15:138

    Content type: Research

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  36. Hemophilia, a high-cost disease, is the only rare disease covered by basic medical insurance in all province of China. However, very few studies have estimated the medical expenditure of patients with this rar...

    Authors: Guang-wen Gong, Ying-chun Chen, Peng-qian Fang and Rui Min

    Citation: Orphanet Journal of Rare Diseases 2020 15:137

    Content type: Research

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  37. Behavioral problems are an important issue for people with CHARGE syndrome. The similarity of their behavioral traits with those of people with autism raises questions. In a large national cross-sectional stud...

    Authors: Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaelle Malecot, Alexia Burtin, Tania Attie-Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier and Laurence Vaivre-Douret

    Citation: Orphanet Journal of Rare Diseases 2020 15:136

    Content type: Research

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  38. 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

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  39. Over the past 30 years, the healthcare industry has increasingly turned its attention to rare diseases. Regulators have emphasized the need for clinical research in this area to be patient-centered. However, t...

    Authors: Sally Lanar, Catherine Acquadro, James Seaton, Isabelle Savre and Benoit Arnould

    Citation: Orphanet Journal of Rare Diseases 2020 15:134

    Content type: Review

    Published on:

  40. Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprec...

    Authors: Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta and Luisa-María Botella

    Citation: Orphanet Journal of Rare Diseases 2020 15:132

    Content type: Letter to the Editor

    Published on:

  41. Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the a...

    Authors: Takashi Hatano, Yuki Ohno, Yu Imai, Jun Moritake, Katsuhisa Endo, Mayumi Tamari and Shin Egawa

    Citation: Orphanet Journal of Rare Diseases 2020 15:133

    Content type: Research

    Published on:

  42. DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic...

    Authors: Bijun Sun, Qiuyu Chen, Ying Wang, Danru Liu, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Jinqiao Sun and Xiaochuan Wang

    Citation: Orphanet Journal of Rare Diseases 2020 15:131

    Content type: Research

    Published on:

  43. The analysis of the main features of randomized controlled trials (RCTs) on ANCA-associated vasculitis (AAV) can inform future study design.

    Authors: Michele Iudici, Xavier Puéchal, Alejandro Brigante, Ignacio Atal and Cem Gabay

    Citation: Orphanet Journal of Rare Diseases 2020 15:130

    Content type: Research

    Published on:

  44. Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies asso...

    Authors: Tenghui Wu, Fei Yin, Shiqi Guang, Fang He, Li Yang and Jing Peng

    Citation: Orphanet Journal of Rare Diseases 2020 15:129

    Content type: Review

    Published on:

  45. Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder...

    Authors: Lidiia Zhytnik, Kadri Simm, Andres Salumets, Maire Peters, Aare Märtson and Katre Maasalu

    Citation: Orphanet Journal of Rare Diseases 2020 15:128

    Content type: Review

    Published on:

  46. Many treatments developed for rare diseases will have an Orphan Medicinal Product (OMP) designation, indicating that they are likely to deliver benefit in an area of high unmet need. Their approval may be base...

    Authors: Lieven Annemans and Amr Makady

    Citation: Orphanet Journal of Rare Diseases 2020 15:127

    Content type: Position statement

    Published on:

  47. Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance ...

    Authors: Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal…

    Citation: Orphanet Journal of Rare Diseases 2020 15:126

    Content type: Review

    Published on:

  48. 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

    Published on:

  49. Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocula...

    Authors: Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer and Susanne Pitz

    Citation: Orphanet Journal of Rare Diseases 2020 15:124

    Content type: Research

    Published on:

  50. Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-...

    Authors: Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan and Grethe Månum

    Citation: Orphanet Journal of Rare Diseases 2020 15:123

    Content type: Research

    Published on:

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172