Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency
Adenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability. Here w... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 1, 2021 Category: Internal Medicine Authors: Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia and Andrea Bartuli Tags: Research Source Type: research

Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
An amendment to this paper has been published and can be accessed via the original article. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 1, 2021 Category: Internal Medicine Authors: Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar and Simon A. Jones Tags: Correction Source Type: research

A comprehensive review of hydroxyurea for β-haemoglobinopathies: the role revisited during COVID-19 pandemic
Hydroxyurea is one of the earliest drugs that showed promise in the management of haemoglobinopathies that include β-thalassaemia and sickle cell disease. Despite this, many aspects of hydroxyurea are either u... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 1, 2021 Category: Internal Medicine Authors: Nirmani Yasara, Anuja Premawardhena and Sachith Mettananda Tags: Review Source Type: research

Impact of single and combined rare diseases on adult inpatient outcomes: a retrospective, cross-sectional study of a large inpatient population
Little is known about the impact of rare diseases on inpatient outcomes. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 27, 2021 Category: Internal Medicine Authors: Reka Maria Blazsik, Patrick Emanuel Beeler, Karol Tarcak, Marcus Cheetham, Viktor von Wyl and Holger Dressel Tags: Research Source Type: research

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients
Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have be... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 27, 2021 Category: Internal Medicine Authors: Juan Buend ía-Martínez, María Barreda-Sánchez, Lidya Rodríguez-Peña, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Elena Pérez-Tomás, Remedios Gil-Ferrer, Francisco Avil Tags: Research Source Type: research

Changes in PCSK 9 and apolipoprotein B100 in Niemann –Pick disease after enzyme replacement therapy with olipudase alfa
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 ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 27, 2021 Category: Internal Medicine Authors: Bethanie Garside, Jan Hoong Ho, See Kwok, Yifen Liu, Shaishav Dhage, Rachelle Donn, Zohaib Iqbal, Simon A. Jones and Handrean Soran Tags: Research Source Type: research

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat
Familial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutation... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 27, 2021 Category: Internal Medicine Authors: Kathryn M. Meurs, Brian G. Williams, Dylan DeProspero, Steven G. Friedenberg, David E. Malarkey, J. Ashley Ezzell, Bruce W. Keene, Darcy B. Adin, Teresa C. DeFrancesco and Sandra Tou Tags: Research Source Type: research

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome
PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant associated m... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 27, 2021 Category: Internal Medicine Authors: Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Katrina A. Andrews, Robert Semple, Alan D. Irvine and Veronika Dvorakova Tags: Research Source Type: research

Unmasked: an insight into three patients ’ rare disease experiences during the COVID-19 pandemic
This article describes my reflections of speaking with three patients and their families living with mastocytosis, who I was introduced to through the UK Mastocytosis Support Group. I discuss the various ways ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 26, 2021 Category: Internal Medicine Authors: Catriona Chaplin Tags: Letter to the Editor Source Type: research

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening
Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack of enough knowl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 26, 2021 Category: Internal Medicine Authors: Marcela Vela-Amieva, Miguel Angel Alc ántara-Ortigoza, Ariadna González-del Angel, Leticia Belmont-Martínez, Carlos López-Candiani and Isabel Ibarra-González Tags: Research Source Type: research

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses
Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the gene... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 25, 2021 Category: Internal Medicine Authors: Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer and Yufei Shi Tags: Research Source Type: research

RDmap: a map for exploring rare diseases
The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and nav... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 25, 2021 Category: Internal Medicine Authors: Jian Yang, Cong Dong, Huilong Duan, Qiang Shu and Haomin Li Tags: Research Source Type: research

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 25, 2021 Category: Internal Medicine Authors: Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze and Eva Morava Tags: Letter to the Editor Source Type: research

French recommendations for the management of Beh çet’s disease
Beh çet’s disease (BD) is a systemic variable vessel vasculitis that involves the skin, mucosa, joints, eyes, arteries, veins, nervous system and gastrointestinal system, presenting with remissions and exacerba... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 24, 2021 Category: Internal Medicine Authors: Isabelle Kone-Paut, St éphane Barete, Bahram Bodaghi, Kumaran Deiva, Anne-Claire Desbois, Caroline Galeotti, Julien Gaudric, Gilles Kaplanski, Alfred Mahr, Nicolas Noel, Maryam Piram, Tu-Anh Tran, Bertrand Wechsler and David Saadoun Tags: Position statement Source Type: research

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia
X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic disorder, affects the normal development of ectodermal derivatives, such as hair, skin, teeth, and sweat glands. It is caused by pathogenic va... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 23, 2021 Category: Internal Medicine Authors: Laura K örber, Holm Schneider, Nicole Fleischer and Sigrun Maier-Wohlfart Tags: Research Source Type: research

Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
Cardiac abnormalities have been observed in patients with mucopolysaccharidosis type II (MPS II). The aim of this study was to investigate the cardiac features and natural progression of Taiwanese patients wit... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 23, 2021 Category: Internal Medicine Authors: Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang and Shuan-Pei Lin Tags: Research Source Type: research

Correction to: A Germany-wide survey study on the patient journey of patients with hereditary angioedema
An amendment to this paper has been published and can be accessed via the original article. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 22, 2021 Category: Internal Medicine Authors: Markus Magerl, Holger Gothe, Simon Krupka, Anja Lachmann and Christoph Ohlmeier Tags: Correction Source Type: research

“I have SMA, SMA doesn’t have me”: a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA
With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 22, 2021 Category: Internal Medicine Authors: Allison Mazzella, Mary Curry, Lisa Belter, Ros ángel Cruz and Jill Jarecki Tags: Research Source Type: research

The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients
Fractures in Gaucher disease type 1 (GD1) patients cause significant morbidity. Fracture risk may be decreased by enzyme replacement therapy (ERT) but not eliminated. When considering initiation of treatment, ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 18, 2021 Category: Internal Medicine Authors: Patrick Deegan, Aneal Khan, Jos é Simon Camelo Jr, Julie L. Batista and Neal Weinreb Tags: Research Source Type: research

Botulinum toxin injections as an effective treatment for patients with intertriginous Hailey-Hailey or Darier disease: an open-label 6-month pilot interventional study
Patients with Hailey-Hailey and Darier diseases present with disabling inflammatory lesions located in large skin folds, which are often exacerbated or induced by sweating. Quality of life is highly impaired b... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 18, 2021 Category: Internal Medicine Authors: Isabelle Dreyfus, Aude Maza, Lauriane Rodriguez, Margot Merlos, H élène Texier, Vanessa Rousseau, Agnès Sommet and Juliette Mazereeuw-Hautier Tags: Research Source Type: research

Clinical characteristics and burden of illness in patients with hereditary angioedema: findings from a multinational patient survey
Hereditary angioedema (HAE) is a rare, debilitating, genetic disease characterized by unpredictable, recurrent, and potentially fatal swelling of the skin and mucous membranes. We conducted a noninterventional... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 18, 2021 Category: Internal Medicine Authors: Joan Mendivil, Ryan Murphy, Marie de la Cruz, Ellen Janssen, Henrik Balle Boysen, Gagan Jain, Emel Ayg ören-Pürsün, Ishan Hirji and Giovanna Devercelli Tags: Research Source Type: research

U-IMD: the first Unified European registry for inherited metabolic diseases
Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherite... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 18, 2021 Category: Internal Medicine Authors: Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juli á-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici and Stefan Kölker Tags: Research Source Type: research

Correction to: Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones
An amendment to this paper has been published and can be accessed via the original article. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 18, 2021 Category: Internal Medicine Authors: Muthuvel Jayachandran, Stanislav V. Yuzhakov, Sanjay Kumar, Nicholas B. Larson, Felicity T. Enders, Dawn S. Milliner, Andrew D. Rule and John C. Lieske Tags: Correction Source Type: research

Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions
One objective of the Belgian Rare Diseases plan is to improve patients ’ management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 17, 2021 Category: Internal Medicine Authors: Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M. J. Devreese, Marie-Fran çoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Lau Tags: Research Source Type: research

Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)
Systemic Sclerosis (SSc) is a chronic autoimmune disease with a complex pathogenesis that includes vascular injury, abnormal immune activation, and tissue fibrosis. We provided a complete epidemiological chara... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 17, 2021 Category: Internal Medicine Authors: Alessio Coi, Simone Barsotti, Michele Santoro, Fabio Almerigogna, Elena Bargagli, Marzia Caproni, Giacomo Emmi, Bruno Frediani, Serena Guiducci, Marco Matucci Cerinic, Marta Mosca, Paola Parronchi, Renato Prediletto, Enrico Selvi, Gabriele Simonini, Anton Tags: Research Source Type: research

Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study
Long-term prophylaxis with subcutaneous C1-inhibitor (C1-INH[SC]; HAEGARDA, CSL Behring) in patients with hereditary angioedema (HAE) due to C1-INH deficiency (C1-INH-HAE) was evaluated in an open-label exten... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 15, 2021 Category: Internal Medicine Authors: William R. Lumry, Bruce Zuraw, Marco Cicardi, Timothy Craig, John Anderson, Aleena Banerji, Jonathan A. Bernstein, Teresa Caballero, Henriette Farkas, Richard G. Gower, Paul K. Keith, Donald S. Levy, H. Henry Li, Markus Magerl, Michael Manning, Marc A. Ri Tags: Research Source Type: research

Dalfampridine in the treatment of multiple sclerosis: a meta-analysis of randomised controlled trials
Multiple sclerosis (MS) is a chronic illness involving the central nervous system (CNS) that is characterised by inflammation, demyelination, and degenerative changes. Dalfampridine is one of the available tre... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 15, 2021 Category: Internal Medicine Authors: Enyao Zhang, Xin Tian, Ruoming Li, Chaoyang Chen, Min Li, Lingyun Ma, Ran Wei, Ying Zhou and Yimin Cui Tags: Review Source Type: research

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective
In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 13, 2021 Category: Internal Medicine Authors: Maria Jo ão Pena, Alex Pinto, Manuela Ferreira de Almeida, Catarina de Sousa Barbosa, Paula Cristina Ramos, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Cláudia Camila Dias, Anita MacDonald, Nuno Borges and Júlio Césa Tags: Research Source Type: research

Consensuses and controversies on pseudomyxoma peritonei: a review of the published consensus statements and guidelines
Pseudomyxoma peritonei (PMP) is a clinical malignant syndrome mainly originating from the appendix, with an incidence of 2 –4 per million people. As a rare disease, an early and accurate diagnosis of PMP is dif... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 13, 2021 Category: Internal Medicine Authors: Yu-Lin Lin, Da-Zhao Xu, Xin-Bao Li, Feng-Cai Yan, Hong-Bin Xu, Zheng Peng and Yan Li Tags: Review Source Type: research

Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale
Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, genetic disease leading to impaired lysosomal function and neurodegeneration causing serious morbidity and shortened life expectancy. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 12, 2021 Category: Internal Medicine Authors: Marc C. Patterson, Lucy Lloyd-Price, Christina Guldberg, Helen Doll, Claire Burbridge, Michael Chladek, Christine íDali, Eugen Mengel and Tara Symonds Tags: Research Source Type: research

Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia
Cervical myelopathy and hydrocephalus occasionally occur in young children with achondroplasia. However, these conditions are not evaluated in a timely manner in many cases. The current study presents signifi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 12, 2021 Category: Internal Medicine Authors: Youngbo Shim, Jung Min Ko, Tae-Joon Cho, Seung ‐Ki Kim and Ji Hoon Phi Tags: Research Source Type: research

Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers
Ataxia-Telangiectasia (A-T) is a multi-system disorder that may be associated with endocrine changes, oxidative stress in addition to inflammation. Studies suggest that selenium is a trace element related to p... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 12, 2021 Category: Internal Medicine Authors: Itana Gomes Alves Andrade, Fab íola Isabel Suano-Souza, Fernando Luiz Affonso Fonseca, Carolina Sanchez Aranda Lago and Roseli Oselka Saccardo Sarni Tags: Research Source Type: research

Do we always need to treat patients with spinal muscular atrophy? A personal view and experience
We report the clinical outcomes observed in our patients with SMA type 1 or 2 receiving nusinersen, and we comment on the ethical implications of this treatment, in line with our results and those reported by ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 11, 2021 Category: Internal Medicine Authors: Caterina Agosto, Eleonora Salamon, Antuan Divisic, Francesca Benedetti, Luca Giacomelli, Aashni Shah, Giorgio Perilongo and Franca Benini Tags: Letter to the Editor Source Type: research

LRSAM1 and the RING domain: Charcot –Marie–Tooth disease and beyond
In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 10, 2021 Category: Internal Medicine Authors: Paulius Palaima, Jos é Berciano, Kristien Peeters and Albena Jordanova Tags: Review Source Type: research

Survey on patients ’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe
The development of new genetic testing methods and the approval of the first treatments raises questions regarding when and how to perform screening for inherited neuromuscular conditions. Screening directives... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 10, 2021 Category: Internal Medicine Authors: F. Lamy, A. Ferlini and Teresinha Evangelista Tags: Research Source Type: research

How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study
This study aimed to explore how care coordination (or lack of) i... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 10, 2021 Category: Internal Medicine Authors: Amy Simpson, Lara Bloom, Naomi J. Fulop, Emma Hudson, Kerry Leeson-Beevers, Stephen Morris, Angus I. G. Ramsay, Alastair G. Sutcliffe, Holly Walton and Amy Hunter Tags: Research Source Type: research

Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain
There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. Most research studies of rare diseases, including HD, use health information systems (HIS) as data so... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 10, 2021 Category: Internal Medicine Authors: Esther Vicente, Ainara Ruiz de Sabando, Ferm ín García, Itziar Gastón, Eva Ardanaz and María A. Ramos-Arroyo Tags: Research Source Type: research

Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency
Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an incre... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 9, 2021 Category: Internal Medicine Authors: Cormac McCarthy, Emmanuelle Bugnet, Amira Benattia, Michael P. Keane, Benoit Vedie, Gwena ël Lorillon and Abdellatif Tazi Tags: Letter to the Editor Source Type: research

Time for a general approval of growth hormone treatment in adults with Prader –Willi syndrome
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... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 8, 2021 Category: Internal Medicine Authors: Charlotte H öybye, Anthony J. Holland and Daniel J. Driscoll Tags: Letter to the Editor Source Type: research

Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups
Transthyretin amyloidosis, or ATTR, is a progressive and debilitating rare proteopathy generally manifested as either transthyretin amyloid polyneuropathy (ATTR-PN) or transthyretin amyloid cardiomyopathy (ATT... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 8, 2021 Category: Internal Medicine Authors: David Rintell, Dena Heath, Florencia Braga Mendendez, Elizabeth Cross, Theodore Cross, Vincent Knobel, Bruno Gagnon, Cameron Turtle, Alan Cohen, Edward Kalmykov and Jonathan Fox Tags: Research Source Type: research

Role of patients associations in connective tissue calcifiying diseases: a position statement from EuroSoftCalc.Net group
Patients have been showing a growing interest in taking active participation in decision making, and having the opportunity to drive clinical investigation. This is more common for patients who have a rare dis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 8, 2021 Category: Internal Medicine Authors: Pedro Valdivielso, Marta Jacinto, Guillemette Devernois, Jorge Laplana, Maria Garc ía-Fernández and Ludovic Martin Tags: Position statement Source Type: research

Analysis of patient access to orphan drugs in Turkey
This study aims t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 6, 2021 Category: Internal Medicine Authors: G üvenç Koçkaya, Sibel Atalay, Gülpembe Oğuzhan, Mustafa Kurnaz, Selin Ökçün, Çiğdem Sar Gedik, Mete Şaylan and Nazlı Şencan Tags: Research Source Type: research

Results of a Patient Reported Experience Measure (PREM) to measure the rare disease patients and caregivers experience: a Spanish cross-sectional study
To measure the experience of the person having a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in S... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 5, 2021 Category: Internal Medicine Authors: Mercedes Guilabert, Alba Mart ínez-García, Marina Sala-González, Olga Solas and José Joaquín Mira Tags: Research Source Type: research

Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction
Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 5, 2021 Category: Internal Medicine Authors: Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Levrence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann and Raul Urrutia Tags: Research Source Type: research

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy
Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and characterized by acute or subacute painless visual loss. Environmental factors reported to trigger visual loss in LHON mut... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 4, 2021 Category: Internal Medicine Authors: Marie-Christine Reinert, David Pacheu-Grau, Claudia B. Catarino, Thomas Klopstock, Andreas Ohlenbusch, Michael Schittkowski, Ekkehard Wilichowski, Peter Rehling and Knut Brockmann Tags: Research Source Type: research

Experience of health care at a reference centre as reported by patients and parents of children with rare conditions
Whilst diagnostic pathways for children with rare conditions have shown marked improvement, concerns remain about the care children with rare conditions receive at the level of the health care provider. There ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 4, 2021 Category: Internal Medicine Authors: Monica Hytiris, Daisy Johnston, Shannon Mullen, Arlene Smyth, Elizabeth Dougan, Martina Rodie and S. Faisal Ahmed Tags: Research Source Type: research

Diagnostic and severity scores for Cockayne syndrome
Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide spectrum of clinical severity levels ranging from s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 3, 2021 Category: Internal Medicine Authors: M. A. Spitz, F. Severac, C. Obringer, S. Baer, N. Le May, N. Calmels and V. Laugel Tags: Research Source Type: research

The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research
The coronavirus disease 2019 (COVID-19) pandemic has had unprecedented impact on the provision of medical care for genetic disorders. The purpose of this study was to assess the effects of the pandemic on neur... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 1, 2021 Category: Internal Medicine Authors: Heather B. Radtke, Bonita P. Klein-Tasman, Vanessa L. Merker, Pamela Knight, Nicole J. Ullrich, Justin T. Jordan, Bruce Korf and Scott R. Plotkin Tags: Letter to the Editor Source Type: research

Building a trusted framework for uncertainty assessment in rare diseases: suggestions for improvement (Response to “TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases”)
The aim of this letter to the editor is to provide a comprehensive summary of uncertainty assessment in Health Technology Assessment, with a focus on transferability to the setting of rare diseases. The author... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 1, 2021 Category: Internal Medicine Authors: Sabine E. Grimm, Xavier Pouwels, Bram L. T. Ramaekers, Ben Wijnen, Saskia Knies, Janneke Grutters and Manuela A. Joore Tags: Letter to the Editor Source Type: research

Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)
Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) i... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 31, 2021 Category: Internal Medicine Authors: N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin, G. Lina-Granade, C. Plault, C. Mottolese, R. Froissart and A. Fouilhoux Tags: Research Source Type: research