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  1. Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders i...

    Authors: Woo Jin Hwang, Han Hyuk Lim, Yoo-Mi Kim, Mea Young Chang, Hong Ryang Kil, Jae Young Kim, Wung Joo Song, Harvey L. Levy and Sook-Za Kim

    Citation: Orphanet Journal of Rare Diseases 2021 16:37

    Content type: Review

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  2. Phenylketonuria (PKU) is an autosomal recessive inherited disorder characterised by a deficiency in phenylalanine hydroxylase. Untreated, PKU is associated with a wide range of cognitive and psychiatric sequel...

    Authors: Nicholas M. Burgess, Wendy Kelso, Charles B. Malpas, Toby Winton-Brown, Timothy Fazio, Julie Panetta, Gerard De Jong, Joanna Neath, Sonny Atherton, Dennis Velakoulis and Mark Walterfang

    Citation: Orphanet Journal of Rare Diseases 2021 16:35

    Content type: Research

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  3. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are p...

    Authors: Zahraa Chayed, Lone Krøldrup Kristensen, Lilian Bomme Ousager, Karina Rønlund and Anette Bygum

    Citation: Orphanet Journal of Rare Diseases 2021 16:34

    Content type: Review

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  4. Untreated hemophilia A patients may experience recurrent bleeding events leading to debilitating joint damages. While RCT and pharmacokinetic data support the value of Kovaltry [an unmodified full-length recom...

    Authors: Jamie O’Hara, Ceri Hirst, Jose Francisco Cabre Marquez and Tom Burke

    Citation: Orphanet Journal of Rare Diseases 2021 16:33

    Content type: Letter to the Editor

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  5. Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The ob...

    Authors: Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau…

    Citation: Orphanet Journal of Rare Diseases 2021 16:32

    Content type: Research

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  6. Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidenc...

    Authors: Ravi Savarirayan, David E. Tunkel, Laura M. Sterni, 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 Klane K. White

    Citation: Orphanet Journal of Rare Diseases 2021 16:31

    Content type: Research

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  7. Neuroendocrine neoplasia of the small intestine (siNEN) are frequently diagnosed with liver metastases. The impact of the presence of liver metastases on overall survival and the necessity of surgery for liver...

    Authors: Andreas Selberherr, Simon Freermann, Oskar Koperek, Martin B. Niederle, Philipp Riss, Christian Scheuba and Bruno Niederle

    Citation: Orphanet Journal of Rare Diseases 2021 16:30

    Content type: Research

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  8. Diffuse interstitial lung disease have been described in Neurofibromatosis type 1 (NF1), but its diversity and prevalence remain unknown. The aim of this study was to assess the prevalence and characteristics ...

    Authors: Maxim Avanesov, Lennart Well, Azien Laqmani, Thorsten Derlin, Vincent M. Riccardi, Gerhard Adam, Victor-Felix Mautner and Johannes Salamon

    Citation: Orphanet Journal of Rare Diseases 2021 16:29

    Content type: Research

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  9. Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare inborn errors of metabolism with autosomal recessive inheritance that may cause life-threatening events. Treatment with triheptanoin, a s...

    Authors: Thomas Zöggeler, Katharina Stock, Monika Jörg-Streller, Johannes Spenger, Vassiliki Konstantopoulou, Miriam Hufgard-Leitner, Sabine Scholl-Bürgi and Daniela Karall

    Citation: Orphanet Journal of Rare Diseases 2021 16:28

    Content type: Research

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  10. For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatment...

    Authors: Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson and Beth K. Potter

    Citation: Orphanet Journal of Rare Diseases 2021 16:26

    Content type: Research

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  11. Despite emerging treatments for hereditary transthyretin (ATTRv) amyloidosis, the disease is often misdiagnosed, with reported diagnostic delays of up to several years. Knowledge of the patient journey leading...

    Authors: Montserrat Vera-Llonch, Sheila R. Reddy, Eunice Chang, Marian H. Tarbox and Michael Pollock

    Citation: Orphanet Journal of Rare Diseases 2021 16:25

    Content type: Research

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  12. Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS...

    Authors: Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2021 16:24

    Content type: Research

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  13. Hereditary angioedema associated to C1 inhibitor deficiency (C1-INH-HAE) is a pathological condition characterized by episodes of subcutaneous swelling and it is frequently associated with discomfort and socia...

    Authors: Livia Savarese, Maria Bova, Assunta Maiello, Angelica Petraroli, Ilaria Mormile, Mauro Cancian, Riccardo Senter, Andrea Zanichelli, Giuseppe Spadaro and Maria Francesca Freda

    Citation: Orphanet Journal of Rare Diseases 2021 16:23

    Content type: Research

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  14. Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, ...

    Authors: Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye…

    Citation: Orphanet Journal of Rare Diseases 2021 16:22

    Content type: Research

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  15. In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreve...

    Authors: Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens and Pieter A. van Doorn

    Citation: Orphanet Journal of Rare Diseases 2021 16:21

    Content type: Research

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  16. The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder...

    Authors: Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Doederlein Schwartz and Eva Morava

    Citation: Orphanet Journal of Rare Diseases 2021 16:20

    Content type: Research

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  17. Rett syndrome (RS) is a severe neurodevelopmental disorder for which there is no approved therapy. This study aimed to assess safety and efficacy of oral fingolimod in children with RS using a pre-post and ca...

    Authors: Yvonne Naegelin, Jens Kuhle, Sabine Schädelin, Alexandre N. Datta, Stefano Magon, Michael Amann, Christian Barro, Gian Paolo Ramelli, Kate Heesom, Yves-Alain Barde, Peter Weber and Ludwig Kappos

    Citation: Orphanet Journal of Rare Diseases 2021 16:19

    Content type: Research

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  18. Primary lymphedema is a rare chronic pathology associated with constitutional abnormalities of the lymphatic system. The objective of this French National Diagnosis and Care Protocol (Protocole National de Dia...

    Authors: Stéphane Vignes, Juliette Albuisson, Laurence Champion, Joël Constans, Valérie Tauveron, Julie Malloizel, Isabelle Quéré, Laura Simon, Maria Arrault, Patrick Trévidic, Philippe Azria and Annabel Maruani

    Citation: Orphanet Journal of Rare Diseases 2021 16:18

    Content type: Position statement

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  19. Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and mole...

    Authors: Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha and Anna Tylki-Szymańska

    Citation: Orphanet Journal of Rare Diseases 2021 16:17

    Content type: Research

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  20. 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

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  21. To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation.

    Authors: Camille S. Corre, Natalie Grant, Reza Sadjadi, Douglas Hayden, Catherine Becker, Pablo Gomery and Florian S. Eichler

    Citation: Orphanet Journal of Rare Diseases 2021 16:14

    Content type: Research

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  22. If symptomatic in infants, the autosomal recessive disease lysosomal acid lipase deficiency (LAL-D; sometimes called Wolman disease or LAL-D/Wolman phenotype) is characterized by complete loss of LAL enzyme ac...

    Authors: Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar and Simon A. Jones

    Citation: Orphanet Journal of Rare Diseases 2021 16:13

    Content type: Research

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  23. Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). Prospective data suggests similar mortality, to the gene...

    Authors: K. P. Thompson, J. Nelson, H. Kim, L. Pawlikowska, D. A. Marchuk, M. T. Lawton and Marie E. Faughnan

    Citation: Orphanet Journal of Rare Diseases 2021 16:12

    Content type: Research

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  24. Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, sev...

    Authors: L. Masi, S. Ferrari, M. K. Javaid, S. Papapoulos, D. D. Pierroz and M. L. Brandi

    Citation: Orphanet Journal of Rare Diseases 2021 16:11

    Content type: Review

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  25. Spinal muscular atrophy (SMA) issues from mutations in the survival of motor neuron (SMN) 1 gene. Loss or reduction of the SMN protein results in progressive muscle weakness. Whether this protein deficiency also ...

    Authors: Lucas Mix, Olivia Schreiber-Katz, Claudia D. Wurster, Zeljko Uzelac, Sophia Platen, Christina Gipperich, Gresa Ranxha, Gary Wieselmann, Alma Osmanovic, Albert C. Ludolph, Susanne Petri and Dorothée Lulé

    Citation: Orphanet Journal of Rare Diseases 2021 16:10

    Content type: Research

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  26. This article presents evidence-based Clinical Practice Guidelines (CPG) for the provision of healthcare services to address sexuality for people living with epidermolysis bullosa (EB). Currently, a lack of EB-...

    Authors: Alex King, Humphrey Hanley, Mark Popenhagen, Florencia Perez, Kerry Thompson, Diana Purvis, Nora Garcia, Ida Steinlein, Mia Werkentoft, Matthew Lightfoot, Michelle Lahat, Kalsoom Begum and Julio Tanabe

    Citation: Orphanet Journal of Rare Diseases 2021 16:9

    Content type: Review

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  27. Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therap...

    Authors: Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer and Joel Frader

    Citation: Orphanet Journal of Rare Diseases 2021 16:8

    Content type: Research

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  28. Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the...

    Authors: Mei Yao, Ying Ma, Ruiying Qian, Yu Xia, Changzheng Yuan, Guannan Bai and Shanshan Mao

    Citation: Orphanet Journal of Rare Diseases 2021 16:7

    Content type: Research

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  29. 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carrier...

    Authors: Farah Qaiser, Yue Yin, Carolyn B. Mervis, Colleen A. Morris, Bonita P. Klein-Tasman, Elaine Tam, Lucy R. Osborne and Ryan K. C. Yuen

    Citation: Orphanet Journal of Rare Diseases 2021 16:6

    Content type: Research

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  30. We examined the clinical manifestations of acute encephalopathy (AE) and identify risk factors for AE in children with tuberous sclerosis complex (TSC).

    Authors: Shingo Numoto, Hirokazu Kurahashi, Atsushi Sato, Masaya Kubota, Takashi Shiihara, Tohru Okanishi, Ryuta Tanaka, Ichiro Kuki, Tetsuhiro Fukuyama, Mitsuru Kashiwagi, Mitsuru Ikeno, Kazuo Kubota, Manami Akasaka, Masakazu Mimaki and Akihisa Okumura

    Citation: Orphanet Journal of Rare Diseases 2021 16:5

    Content type: Research

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  31. 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

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  32. Centronuclear myopathies are severe rare congenital diseases. The clinical variability and genetic heterogeneity of these myopathies result in major challenges in clinical trial design. Alternative strategies ...

    Authors: Eve Fouarge, Arnaud Monseur, Bruno Boulanger, Mélanie Annoussamy, Andreea M. Seferian, Silvana De Lucia, Charlotte Lilien, Leen Thielemans, Khazal Paradis, Belinda S. Cowling, Chris Freitag, Bradley P. Carlin and Laurent Servais

    Citation: Orphanet Journal of Rare Diseases 2021 16:3

    Content type: Research

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  33. In the Netherlands (NL) the government assigned 2 hospitals as centres of expertise (CE) for Phenylketonuria (PKU), while in the United Kingdom (UK) and Germany no centres are assigned specifically as PKU CE’s.

    Authors: A. M. J. van Wegberg, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. van Vliet and F. J. van Spronsen

    Citation: Orphanet Journal of Rare Diseases 2021 16:2

    Content type: Research

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  34. Langerhans cell histiocytosis (LCH) is a rare disease that originates from the uncontrolled proliferation and accumulation of bone marrow-derived immature myeloid dendritic cells. Dendritic cells are a type of...

    Authors: Nahid Reisi, Pouran Raeissi, Touraj Harati Khalilabad and Alireza Moafi

    Citation: Orphanet Journal of Rare Diseases 2021 16:1

    Content type: Review

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  35. Systemic necrotizing vasculitis comprises a group of diseases resembling polyarteritis nodosa and anti-neutrophil cytoplasmic antibody-associated vasculitis (ANCA): granulomatosis with polyangiitis, eosinophil...

    Authors: Benjamin Terrier, Raphaël Darbon, Cécile-Audrey Durel, Eric Hachulla, Alexandre Karras, Hélène Maillard, Thomas Papo, Xavier Puechal, Grégory Pugnet, Thomas Quemeneur, Maxime Samson, Camille Taille and Loïc Guillevin

    Citation: Orphanet Journal of Rare Diseases 2020 15(Suppl 2):351

    Content type: Position statement

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    This article is part of a Supplement: Volume 15 Supplement 2

  36. On March 11, 2020, WHO has defined the novel coronavirus disease SARS-CoV-2 (COVID-19) outbreak as a pandemic that still today continues to affect much of the world. Among the reasons for the rapid spread of S...

    Authors: Fabio Pagella, Roberta Lizzio, Sara Ugolini, Giuseppe Spinozzi, Eugenia Maiorano, Patrizia Suppressa, Carlo Sabbà and Elina Matti

    Citation: Orphanet Journal of Rare Diseases 2020 15:350

    Content type: Letter to the Editor

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  37. Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy. Systemic manifestati...

    Authors: Aimee Donald, Chong Y. Tan, Anupam Chakrapani, Derralyn A. Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, Martin Gorges, Simon A. Jones and Erich Schneider

    Citation: Orphanet Journal of Rare Diseases 2020 15:349

    Content type: Research

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  38. Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage ...

    Authors: M. Grandis, L. Obici, M. Luigetti, C. Briani, F. Benedicenti, G. Bisogni, M. Canepa, F. Cappelli, C. Danesino, G. M. Fabrizi, S. Fenu, G. Ferrandes, C. Gemelli, F. Manganelli, A. Mazzeo, L. Melchiorri…

    Citation: Orphanet Journal of Rare Diseases 2020 15:348

    Content type: Position statement

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  39. In 2017, the European Commission has launched the European Reference Networks (ERNs), virtual networks involving healthcare providers across Europe. The aim of the ERNs is to tackle complex and rare diseases a...

    Authors: Talarico Rosaria, Cannizzo Sara, Lorenzoni Valentina, Marinello Diana, Palla Ilaria, Pirri Salvatore, Ticciati Simone, Trieste Leopoldo, Triulzi Isotta, Terol Enrique, Bucher Anna and Turchetti Giuseppe

    Citation: Orphanet Journal of Rare Diseases 2020 15:347

    Content type: Research

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  40. Unbiased in silico approaches applied to genome-wide data prioritized putative functional gene variants associating with treatment-resistant ophthalmoplegic myasthenia gravis (OP-MG). Although altered expressi...

    Authors: Tarin A. Europa, Melissa Nel and Jeannine M. Heckmann

    Citation: Orphanet Journal of Rare Diseases 2020 15:346

    Content type: Research

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  41. Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have ...

    Authors: Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa and Maciej Robert Krawczyński

    Citation: Orphanet Journal of Rare Diseases 2020 15:345

    Content type: Research

    Published on:

  42. Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological c...

    Authors: Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan and Zhaoxia Wang

    Citation: Orphanet Journal of Rare Diseases 2020 15:344

    Content type: Research

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  43. GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically con...

    Authors: Soo Yeon Kim, YoungKyu Shim, Young Joon Ko, Soojin Park, Se Song Jang, Byung Chan Lim, Ki Joong Kim and Jong-Hee Chae

    Citation: Orphanet Journal of Rare Diseases 2020 15:343

    Content type: Research

    Published on:

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

    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 15:342

    Content type: Correction

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    The original article was published in Orphanet Journal of Rare Diseases 2020 15:123

  45. The ongoing coronavirus disease 2019 (COVID-19) pandemic has caused disruption in all aspects of daily life, including the management and treatment of rare inherited metabolic disorders (IMDs). To perform a pr...

    Authors: C. Lampe, C. Dionisi-Vici, C. M. Bellettato, L. Paneghetti, C. van Lingen, S. Bond, C. Brown, A. Finglas, R. Francisco, S. Sestini, J. M. Heard and M. Scarpa

    Citation: Orphanet Journal of Rare Diseases 2020 15:341

    Content type: Letter to the Editor

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  46. This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential c...

    Authors: Deyun Lu, Feng Han, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Lili Liang, Yu Wang, Wenjun Ji, Xia Zhan, Xuefan Gu and Lianshu Han

    Citation: Orphanet Journal of Rare Diseases 2020 15:340

    Content type: Research

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  47. Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.

    Authors: Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze and Saadet Mercimek-Andrews

    Citation: Orphanet Journal of Rare Diseases 2020 15:339

    Content type: Research

    Published on: