Skip to main content

Articles

Page 2 of 49

  1. Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light. Afamelanotide is the fi...

    Authors: Jasmin Barman-Aksözen, Michèle Nydegger, Xiaoye Schneider-Yin and Anna-Elisabeth Minder

    Citation: Orphanet Journal of Rare Diseases 2020 15:213

    Content type: Research

    Published on:

  2. Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436). Its clinical pres...

    Authors: Marius Vogt, Hermann Girschick, Tilmann Schweitzer, Clemens Benoit, Annette Holl-Wieden, Lothar Seefried, Franz Jakob and Christine Hofmann

    Citation: Orphanet Journal of Rare Diseases 2020 15:212

    Content type: Research

    Published on:

  3. Mucinous colon cancers (MCC) are characterized by abundant production of mucin 2 (MUC2) protein and are less sensitive to standard systemic chemotherapy. We postulated that severe/persistent endoplasmic reticu...

    Authors: Ashok K. Dilly, Brendon D. Honick, Yong J. Lee, David L. Bartlett and Haroon A. Choudry

    Citation: Orphanet Journal of Rare Diseases 2020 15:211

    Content type: Research

    Published on:

  4. Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvements in diagnosis and treatment, a growing number of pediatric IMD patients reach adulthood. Thus, clinical care of adults w...

    Authors: Karim Gariani, Marina Nascimento, Andrea Superti-Furga and Christel Tran

    Citation: Orphanet Journal of Rare Diseases 2020 15:210

    Content type: Research

    Published on:

  5. Tuberous sclerosis complex (TSC) is a genetic disorder that cause tumors to form in many organs. These lesions may lead to epilepsy, autism, developmental delay, renal, and pulmonary failure. Loss of function ...

    Authors: Yiyang Lu, Erik Y. Zhang, Jie Liu and Jane J. Yu

    Citation: Orphanet Journal of Rare Diseases 2020 15:209

    Content type: Research

    Published on:

  6. Peutz-Jeghers Syndrome (PJS) is known as a rare inherited polyposis due to the malfunction of serine/threonine kinase gene LKB1. However, not all of PJS patients carry LKB1 germline mutation. Previous researches ...

    Authors: Teng Li, Wensheng Lin, Yilei Zhao, Jianping Zhu, Tao Sun and Li Ren

    Citation: Orphanet Journal of Rare Diseases 2020 15:208

    Content type: Research

    Published on:

  7. Mutations in CRYAA, which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes.

    Authors: Andrey V. Marakhonov, Anna A. Voskresenskaya, Maria Jose Ballesta, Fedor A. Konovalov, Tatyana A. Vasilyeva, Fiona Blanco-Kelly, Nadezhda A. Pozdeyeva, Vitaly V. Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A. Zinchenko and Marta Corton

    Citation: Orphanet Journal of Rare Diseases 2020 15:207

    Content type: Research

    Published on:

  8. Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...

    Authors: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann…

    Citation: Orphanet Journal of Rare Diseases 2020 15:206

    Content type: Research

    Published on:

  9. Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). The varying phenotypes and low frequencies of each somat...

    Authors: Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, Tae-Joon Cho, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jeong Ho Lee, Nam Suk Sim and Jung Min Ko

    Citation: Orphanet Journal of Rare Diseases 2020 15:205

    Content type: Research

    Published on:

  10. Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management of such complications is of key clinical importance. In some infants w...

    Authors: Raja Padidela, Robert Yates, Dan Benscoter, Gary McPhail, Elaine Chan, Jaya Nichani, M. Zulf Mughal, Charles Myer IV, Omendra Narayan, Claire Nissenbaum, Stuart Wilkinson, Shanggen Zhou and Howard M. Saal

    Citation: Orphanet Journal of Rare Diseases 2020 15:204

    Content type: Research

    Published on:

  11. Extensive studies in the past 30 years have established that cyclin-dependent kinases (CDKs) exert many diverse, important functions in a number of molecular and cellular processes that are at play during deve...

    Authors: Pierre Colas

    Citation: Orphanet Journal of Rare Diseases 2020 15:203

    Content type: Review

    Published on:

  12. An amendment to this paper has been published and can be accessed via the original article.

    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 15:202

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:126

  13. Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast,...

    Authors: Ilaria Baldelli, Alessio Baccarani, Chiara Barone, Francesca Bedeschi, Sebastiano Bianca, Olga Calabrese, Marco Castori, Nunzio Catena, Massimo Corain, Sara Costanzo, Giacomo De Paoli Barbato, Santa De Stefano, Maria Teresa Divizia, Francesco Feletti, Matteo Formica, Mario Lando…

    Citation: Orphanet Journal of Rare Diseases 2020 15:201

    Content type: Review

    Published on:

  14. 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

    Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:230

  15. Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism. While the c.609G > A mutation is most frequent in Chinese cblC patients...

    Authors: Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng…

    Citation: Orphanet Journal of Rare Diseases 2020 15:200

    Content type: Research

    Published on:

  16. As part of a late onset GM2 gangliosidosis natural history study, digital health technology was utilized to monitor a group of patients remotely between hospital visits. This approach was explored as a means o...

    Authors: Elin Haf Davies, Jean Johnston, Camilo Toro and Cynthia J. Tifft

    Citation: Orphanet Journal of Rare Diseases 2020 15:199

    Content type: Research

    Published on:

  17. In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich’s Ataxia (FRDA), a genetic disorder usuall...

    Authors: Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz…

    Citation: Orphanet Journal of Rare Diseases 2020 15:198

    Content type: Research

    Published on:

  18. The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue fragility. Class...

    Authors: Marco Ritelli, Marina Venturini, Valeria Cinquina, Nicola Chiarelli and Marina Colombi

    Citation: Orphanet Journal of Rare Diseases 2020 15:197

    Content type: Research

    Published on:

  19. Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients. However, its age-related preva...

    Authors: Alice Brambilla, Iacopo Olivotto, Silvia Favilli, Gaia Spaziani, Silvia Passantino, Elena Procopio, Amelia Morrone and Maria Alice Donati

    Citation: Orphanet Journal of Rare Diseases 2020 15:196

    Content type: Research

    Published on:

  20. INAD is an autosomal recessive neurogenetic disorder caused by biallelic pathogenic variants in PLA2G6. The downstream enzyme, iPLA2, plays a critical role in cell membrane homeostasis by helping to regulate leve...

    Authors: Paldeep S. Atwal, Mark Midei, Darius Adams, Alexander Fay, Frederic Heerinckx and Peter Milner

    Citation: Orphanet Journal of Rare Diseases 2020 15:195

    Content type: Research

    Published on:

  21. Expanded access programs (EAPs) allow patients with serious, life-threatening conditions access to drugs prior to their formal approval. Despite the possible benefits for patients, EAPs present several challen...

    Authors: Petra Kiefer, Janbernd Kirschner, Astrid Pechmann and Thorsten Langer

    Citation: Orphanet Journal of Rare Diseases 2020 15:194

    Content type: Research

    Published on:

  22. Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heter...

    Authors: Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo and Edward C. Hsiao

    Citation: Orphanet Journal of Rare Diseases 2020 15:193

    Content type: Research

    Published on:

  24. Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. Liver trans...

    Authors: Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito…

    Citation: Orphanet Journal of Rare Diseases 2020 15:169

    Content type: Research

    Published on:

  25. In diagnosis of rare genetic diseases we face a decision as to the degree to which the sequencing lab offers one or more diagnoses based on clinical input provided by the clinician, or the clinician reaches a ...

    Authors: Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley and Joseph Gleeson

    Citation: Orphanet Journal of Rare Diseases 2020 15:191

    Content type: Research

    Published on:

  26. Chronic wounds are a fundamental issue for patients with epidermolysis bullosa (EB). Herein, we assess the natural history of wound closure in patients with EB who were randomly assigned to the vehicle-control...

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

    Citation: Orphanet Journal of Rare Diseases 2020 15:190

    Content type: Research

    Published on:

  27. There is increasing recognition that conventional appraisal approaches may be unsuitable for assessing the value rare disease treatments (RDTs). This research examines what supplemental appraisal/reimbursement...

    Authors: Elena Nicod, Amanda Whittal, Michael Drummond and Karen Facey

    Citation: Orphanet Journal of Rare Diseases 2020 15:189

    Content type: Research

    Published on:

  28. Mastermind-like domain-containing 1 (MAMLD1) has previously been identified as a causative gene for “46,XY Disorders of Sex Development (DSD)”. Recently, there has been some controversy regarding the causative ro...

    Authors: Lele Li, Chang Su, Lijun Fan, Fenqi Gao, Xuejun Liang and Chunxiu Gong

    Citation: Orphanet Journal of Rare Diseases 2020 15:188

    Content type: Research

    Published on:

  29. Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic disorders with a birth incidence as high as 1:2000. It is caused by mutations in the NF1 gene on chromosome 17 which encodes neurofib...

    Authors: Christina Bergqvist, François Hemery, Salah Ferkal and Pierre Wolkenstein

    Citation: Orphanet Journal of Rare Diseases 2020 15:186

    Content type: Letter to the Editor

    Published on:

  30. Hereditary Hemorrhagic Telangiectasia (HHT) is a rare inherited disorder characterized by development of mucocutaneous telangiectases and visceral organ arteriovenous malformations, which can lead to recurrent...

    Authors: Joan D. Beckman, Quefeng Li, Samuel T. Hester, Ofri Leitner, Karen L. Smith and Raj S. Kasthuri

    Citation: Orphanet Journal of Rare Diseases 2020 15:185

    Content type: Research

    Published on:

  32. NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, the...

    Authors: Xiao-Hong Xie, Li-Qiang Wang, Yin-Yin Qin, Xin-Qing Lin, Zhan-Hong Xie, Ming Liu, Jie-Xia Zhang, Ming Ouyang, Jun Liu, Ying-Ying Gu, Shi-Yue Li and Cheng-Zhi Zhou

    Citation: Orphanet Journal of Rare Diseases 2020 15:183

    Content type: Research

    Published on:

  33. Epidermolysis bullosa (EB) comprises inherited mechanobullous dermatoses with considerable morbidity and mortality. While current treatments are symptomatic, a growing number of innovative therapeutic compound...

    Authors: Christine Prodinger, Anja Diem, Katherina Ude-Schoder, Josefina Piñón-Hofbauer, Sophie Kitzmueller, Johann W. Bauer and Martin Laimer

    Citation: Orphanet Journal of Rare Diseases 2020 15:182

    Content type: Research

    Published on:

  34. Autoimmune necrotizing myopathy with anti-signal recognition particle antibodies (ANM-SRP) is regarded as refractory myositis, whereby some patients respond poorly to conventional immunosuppression and require...

    Authors: Yawen Zhao, Wei Zhang, Yilin Liu, Zhaoxia Wang and Yun Yuan

    Citation: Orphanet Journal of Rare Diseases 2020 15:181

    Content type: Research

    Published on:

  35. Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being us...

    Authors: Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau…

    Citation: Orphanet Journal of Rare Diseases 2020 15:180

    Content type: Research

    Published on:

  36. Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18 months of tre...

    Authors: Teresa Coelho, David Adams, Isabel Conceição, Márcia Waddington-Cruz, Hartmut H. Schmidt, Juan Buades, Josep Campistol, John L. Berk, Michael Polydefkis, Jing Jing Wang, Jihong Chen, Marianne T. Sweetser, Jared Gollob and Ole B. Suhr

    Citation: Orphanet Journal of Rare Diseases 2020 15:179

    Content type: Research

    Published on:

  37. Sickle cell disease (SCD) is an autosomal recessive blood disorder affecting approximately 100,000 Americans and 3.1 million people globally. The scarcity of relevant knowledge and experience with rare disease...

    Authors: Jeffrey A. Glassberg, Elizabeth A. Linton, Katrina Burson, Tabitha Hendershot, Joseph Telfair, Julie Kanter, Victor R. Gordeuk, Allison A. King, Cathy L. Melvin, Nirmish Shah, Jane S. Hankins, Axel Yannick Epié and Lynne D. Richardson

    Citation: Orphanet Journal of Rare Diseases 2020 15:178

    Content type: Research

    Published on:

  38. Though case reports and limited case series of Sickle cell disease in Sri Lanka have been reported previously, no attempt has been made hitherto to undertake a comprehensive genotypic-phenotypic analysis of th...

    Authors: Thamal Darshana, Dayananda Bandara, Upul Nawarathne, Udaya de Silva, Yasinta Costa, Kalavitigoda Pushpakumara, Sumithra Pathirage, Seuwandi Basnayake, Chamila Epa, Pradeepa Dilrukshi, Maheshaka Wijayawardena, Angela A. Anthony, Rexan Rodrigo, Aresha Manamperi, Frances Smith, Angela Allen…

    Citation: Orphanet Journal of Rare Diseases 2020 15:177

    Content type: Research

    Published on:

  39. The purpose of this study was to create a practical CT-based algorithm to differentiate Birt-Hogg-Dubé (BHD) syndrome from other diffuse cystic lung diseases (DCLD).

    Authors: Wenshuai Xu, Zhiyan Xu, Yaping Liu, Yongzhong Zhan, Xin Sui, Ruie Feng, Min Peng, Xue Li, Jun Wang, Shuzhen Meng, Li Wang, Xinlun Tian, Xue Zhang and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2020 15:176

    Content type: Research

    Published on:

  40. Urinary dysfunction is one of the main features of human T-cell leukemia virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). However, a comprehensive assessment of the severity is diffic...

    Authors: Natsuko Yamakawa, Naoko Yagishita, Tomohiro Matsuo, Junji Yamauchi, Takahiko Ueno, Eisuke Inoue, Ayako Takata, Misako Nagasaka, Natsumi Araya, Daisuke Hasegawa, Ariella Coler-Reilly, Shuntaro Tsutsumi, Tomoo Sato, Abelardo Araujo, Jorge Casseb, Eduardo Gotuzzo…

    Citation: Orphanet Journal of Rare Diseases 2020 15:175

    Content type: Research

    Published on:

  41. Treatment of autoimmune pulmonary alveolar proteinosis (aPAP) by inhaled granulocyte-macrophage colony stimulating factor (GM-CSF) is considered safe and effective. Evidence of benefit from GM-CSG inhalation f...

    Authors: Xinlun Tian, Yanli Yang, Lulu Chen, Xin Sui, Wenshuai Xu, Xue Li, Xiaobei Guo, Lingshan Liu, Yusen Situ, Jun Wang, Yang Zhao, Shuzhen Meng, Wei Song, Yonglong Xiao and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2020 15:174

    Content type: Research

    Published on:

  42. 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

    Published on:

  43. 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

    Published on:

  44. 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

    Published on:

  45. 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

    Published on:

  47. 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:

  48. 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

    Published on:

  49. 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

    Published on:

  50. 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:

Submit manuscript

Follow

  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172