abstract：BACKGROUND:Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden. The objectives of this patient survey were to better understand the real-world experiences of patients living with cutaneous neurofibromas (cNF), to perceive their satisfaction and fee...

journal_title：Orphanet journal of rare diseases

authors： Guiraud M,Bouroubi A,Beauchamp R,Bocquet A,Grégoire JM,Rauly-Lestienne I,Blanco I,Wolkenstein P,Schmitt AM

更新日期：2019-12-04 00:00:00

abstract：:The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic a...

journal_title：Orphanet journal of rare diseases

authors： van de Laar IMBH,Arbustini E,Loeys B,Björck E,Murphy L,Groenink M,Kempers M,Timmermans J,Roos-Hesselink J,Benke K,Pepe G,Mulder B,Szabolcs Z,Teixidó-Turà G,Robert L,Emmanuel Y,Evangelista A,Pini A,von Kodolitsch Y,J

更新日期：2019-11-21 00:00:00

abstract：OBJECTIVE:To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation. METHODS:We prospectively analyzed 40 consecutive patients with a diagnosis of laminopathy followed at a single centre between 1998 and 2...

journal_title：Orphanet journal of rare diseases

authors： Ditaranto R,Boriani G,Biffi M,Lorenzini M,Graziosi M,Ziacchi M,Pasquale F,Vitale G,Berardini A,Rinaldi R,Lattanzi G,Potena L,Martin Suarez S,Bacchi Reggiani ML,Rapezzi C,Biagini E

更新日期：2019-11-19 00:00:00

abstract：BACKGROUND:Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties including autism spectrum disorder, the literature referring to fac...

journal_title：Orphanet journal of rare diseases

authors： Debladis J,Valette M,Strenilkov K,Mantoulan C,Thuilleaux D,Laurier V,Molinas C,Barone P,Tauber M

更新日期：2019-11-15 00:00:00

abstract：BACKGROUND:Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, industry hesitated to undertake relevant research and development (R&D). In response, the governme...

journal_title：Orphanet journal of rare diseases

authors： Choudhury MC,Saberwal G

更新日期：2019-11-04 00:00:00

abstract：BACKGROUND:Von Hippel-Lindau (VHL) disease is a multi-systemic hereditary disease associated with several benign and malignant tumor entities, including clear cell renal cell carcinoma (ccRCC). Since ccRCCs grow slowly, nephron sparing surgery is typically performed at a tumor diameter of 3-4 cm before the tumor metast...

journal_title：Orphanet journal of rare diseases

authors： Schuhmacher P,Kim E,Hahn F,Sekula P,Jilg CA,Leiber C,Neumann HP,Schultze-Seemann W,Walz G,Zschiedrich S

更新日期：2019-10-28 00:00:00

abstract：BACKGROUND:Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review was to investigate the incidence and profile of cognitive impairments in patients with classical gal...

journal_title：Orphanet journal of rare diseases

authors： Hermans ME,Welsink-Karssies MM,Bosch AM,Oostrom KJ,Geurtsen GJ

更新日期：2019-10-18 00:00:00

abstract：BACKGROUND:Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their guideline adherence. Although there is substantial research on the factor...

journal_title：Orphanet journal of rare diseases

authors： Denger B,Kinnett K,Martin A,Grant S,Armstrong C,Khodyakov D

更新日期：2019-08-20 00:00:00

abstract：BACKGROUND:Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder characterized by wide clinical, genetic and pathomechanistic heterogeneity. Recently, the gene encoding peripheral myelin protein 2 (PMP2) was identified as a novel cause for CMT neuropathy with three mutations that structu...

journal_title：Orphanet journal of rare diseases

authors： Palaima P,Chamova T,Jander S,Mitev V,Van Broeckhoven C,Tournev I,Peeters K,Jordanova A

更新日期：2019-08-14 00:00:00

abstract：BACKGROUND:Achondroplasia is the most common form of disproportionate short stature and might affect not only the quality of life of the affected child but also that of the parents. OBJECTIVES:We aimed to investigate the quality of life of children with achondroplasia from child- and parent perspective as well as the ...

journal_title：Orphanet journal of rare diseases

authors： Witt S,Kolb B,Bloemeke J,Mohnike K,Bullinger M,Quitmann J

更新日期：2019-08-09 00:00:00

abstract：BACKGROUND:Inherited Factor XIII deficiency (FXIIID) is one of the most severe and under-diagnosed rare bleeding disorders. Only 5 large deletions involving one or more exons in F13A1 have been reported, and lacking of multiplex ligation-dependent probe amplification (MLPA) assay might underestimate the copy number var...

journal_title：Orphanet journal of rare diseases

authors： Ma S,Chen C,Liang Q,Wu X,Wang X,Wu W,Liu Y,Ding Q

更新日期：2019-07-24 00:00:00

abstract：BACKGROUND:Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment. The management of PKU should start as soon as possible after diagno...

journal_title：Orphanet journal of rare diseases

authors： Trefz KF,Muntau AC,Kohlscheen KM,Altevers J,Jacob C,Braun S,Greiner W,Jha A,Jain M,Alvarez I,Lane P,Schröder C,Rutsch F

更新日期：2019-07-22 00:00:00

abstract：BACKGROUND:A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition of the increased risks of in utero exposure to VPA ...

journal_title：Orphanet journal of rare diseases

authors： Clayton-Smith J,Bromley R,Dean J,Journel H,Odent S,Wood A,Williams J,Cuthbert V,Hackett L,Aslam N,Malm H,James G,Westbom L,Day R,Ladusans E,Jackson A,Bruce I,Walker R,Sidhu S,Dyer C,Ashworth J,Hindley D,Diaz G

更新日期：2019-07-19 00:00:00

abstract：BACKGROUND:The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge and expertise are limited and patient populations are geographically dispersed. Understanding what p...

journal_title：Orphanet journal of rare diseases

authors： Courbier S,Dimond R,Bros-Facer V

更新日期：2019-07-12 00:00:00

abstract：:The European Reference Network for rare liver diseases (ERN RARE-LIVER) is a Europe-wide network of paediatric and adult hepatologists from expert centres in close collaboration with patient advocates from the various disease-areas covered in our ERN. The ERN is focused on providing more equitable care across Europe a...

journal_title：Orphanet journal of rare diseases

authors： Bernts LHP,Jones DEJ,Kaatee MM,Lohse AW,Schramm C,Sturm E,Drenth JPH

更新日期：2019-07-08 00:00:00

abstract：BACKGROUND:Sporadic inclusion body myositis (sIBM) is the most prevalent muscle disease in elderly people, affecting the daily activities. sIBM is progressive with unknown cause and without effective treatment. In 2015, sIBM was classified as an intractable disease by the Japanese government, and the treatment cost was...

journal_title：Orphanet journal of rare diseases

authors： Suzuki N,Mori-Yoshimura M,Yamashita S,Nakano S,Murata KY,Mori M,Inamori Y,Matsui N,Kimura E,Kusaka H,Kondo T,Ito H,Higuchi I,Hashiguchi A,Nodera H,Kaji R,Tateyama M,Izumi R,Ono H,Kato M,Warita H,Takahashi T,Ni

更新日期：2019-06-26 00:00:00

abstract：:The practice of genomic medicine stands to revolutionize our approach to medical care, and to realize this goal will require discovery of the relationship between rare variation at each of the ~ 20,000 protein-coding genes and their consequent impact on individual health and expression of Mendelian disease. The step-w...

journal_title：Orphanet journal of rare diseases

authors： Posey JE

更新日期：2019-06-24 00:00:00

abstract：:Schnitzler's syndrome is an auto-inflammatory disorder which is characterized by two mandatory features: an urticarial rash and a monoclonal gammopathy. Although the pathophysiology of this syndrome is not yet fully understood, a role for interleukin-1 seems apparent. While this presumed link between interleukin-1 and...

journal_title：Orphanet journal of rare diseases

authors： van Leersum FS,Potjewijd J,van Geel M,Steijlen PM,Vreeburg M

更新日期：2019-06-22 00:00:00

abstract：BACKGROUND:The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences suggest two therapeutic approaches: the reduction of the mutation load in heteroplasmic patients or...

journal_title：Orphanet journal of rare diseases

authors： Emperador S,López-Gallardo E,Hernández-Ainsa C,Habbane M,Montoya J,Bayona-Bafaluy MP,Ruiz-Pesini E

更新日期：2019-06-21 00:00:00

abstract：BACKGROUND:Primary Ciliary Dyskinesia (PCD) diagnosis relies on a combination of tests which may include (a) nasal Nitric Oxide (nNO), (b) High Speed Video Microscopy (HSVM) and (c) Transmission Electron Microscopy (TEM). There is variability in the availability of these tests and lack of universal agreement whether di...

journal_title：Orphanet journal of rare diseases

authors： Kouis P,Papatheodorou SI,Middleton N,Giallouros G,Kyriacou K,Cohen JT,Evans JS,Yiallouros PK

更新日期：2019-06-13 00:00:00

abstract：BACKGROUND:Congenital tuberculosis is rare and carries a high mortality rate. Our objective was to summarize the current experience of the diagnosis and treatment of patients with congenital tuberculosis. METHODS:In total, 73 reported cases of congenital tuberculosis published in Chinese and 19 patients with congenita...

journal_title：Orphanet journal of rare diseases

authors： Li C,Liu L,Tao Y

更新日期：2019-06-10 00:00:00

abstract：:The original version of this article [1] unfortunately included an error to an author's name. Author Maja Di Rocco was erroneously presented as Maja DiRocco.The correct author name has been included in the author list of this Correction article and is already updated in the original article. ...

journal_title：Orphanet journal of rare diseases

authors： Pignolo RJ,Baujat G,Brown MA,De Cunto C,Di Rocco M,Hsiao EC,Keen R,Al Mukaddam M,Sang KLQ,Wilson A,White B,Grogan DR,Kaplan FS

更新日期：2019-05-23 00:00:00

abstract：:After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below. ...

journal_title：Orphanet journal of rare diseases

authors： Pittaway JFH,Harrison C,Rhee Y,Holder-Espinasse M,Fryer AE,Cundy T,Drake WM,Irving MD

更新日期：2019-05-10 00:00:00

abstract：BACKGROUND:X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined treatment with the ACE-inhibitor enalapril and the β-blocker metoprolol in a German cohort of infant...

journal_title：Orphanet journal of rare diseases

authors： Dittrich S,Graf E,Trollmann R,Neudorf U,Schara U,Heilmann A,von der Hagen M,Stiller B,Kirschner J,Pozza RD,Müller-Felber W,Weiss K,von Au K,Khalil M,Motz R,Korenke C,Lange M,Wilichowski E,Pattathu J,Ebinger F,Wiec

更新日期：2019-05-10 00:00:00

abstract：BACKGROUND:Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson's disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of PD may be preceded by many non-motor symptoms (NMS), which include hyposm...

journal_title：Orphanet journal of rare diseases

authors： Wilke MVMB,Dornelles AD,Schuh AS,Vairo FP,Basgalupp SP,Siebert M,Nalin T,Piltcher OB,Schwartz IVD

更新日期：2019-05-10 00:00:00

abstract：PURPOSE:Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. Here, caregivers and patients prioritize factors influencing decision making regarding participation in...

journal_title：Orphanet journal of rare diseases

authors： Paquin RS,Fischer R,Mansfield C,Mange B,Beaverson K,Ganot A,Martin AS,Morris C,Rensch C,Ricotti V,Russo LJ,Sadosky A,Smith EC,Peay HL

更新日期：2019-05-09 00:00:00

abstract：BACKGROUND:Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick type A/B) and chronic visceral ASMD (Niemann-Pick type B). We conduc...

journal_title：Orphanet journal of rare diseases

authors： Lipiński P,Kuchar L,Zakharova EY,Baydakova GV,Ługowska A,Tylki-Szymańska A

更新日期：2019-02-22 00:00:00

abstract：BACKGROUND:Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability. RESULTS:The patients were evalu...

journal_title：Orphanet journal of rare diseases

authors： Power B,Ferreira CR,Chen D,Zein WM,O'Brien KJ,Introne WJ,Stephen J,Gahl WA,Huizing M,Malicdan MCV,Adams DR,Gochuico BR

更新日期：2019-02-21 00:00:00

abstract：BACKGROUND:The burden of rare diseases on society and patients' families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the management of these patients. We investigated the average annual cumul...

journal_title：Orphanet journal of rare diseases

authors： Lim SS,Lee W,Kim YK,Kim J,Park JH,Park BR,Yoon JH

更新日期：2019-02-18 00:00:00

abstract：BACKGROUND:The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de novo variants in TUBA1A. RESULTS:In three individuals with developmental delay w...

journal_title：Orphanet journal of rare diseases

authors： Hebebrand M,Hüffmeier U,Trollmann R,Hehr U,Uebe S,Ekici AB,Kraus C,Krumbiegel M,Reis A,Thiel CT,Popp B

更新日期：2019-02-11 00:00:00

abstract：BACKGROUND:Clinical trials in rare diseases are more challenging than trials in frequent diseases. Small numbers of eligible trial participants, often complicated by heterogeneity among rare disease patients, hamper the design and conduct of a 'classical' Randomized Controlled Trial. Therefore, novel designs are develo...

journal_title：Orphanet journal of rare diseases

authors： Gaasterland CMW,van der Weide MCJ,du Prie-Olthof MJ,Donk M,Kaatee MM,Kaczmarek R,Lavery C,Leeson-Beevers K,O'Neill N,Timmis O,van Nederveen V,Vroom E,van der Lee JH

更新日期：2019-02-07 00:00:00

abstract：BACKGROUND:While extraocular muscles are affected early in myasthenia gravis (MG), but respond to treatment, we observe a high incidence of treatment-resistant ophthalmoplegia (OP-MG) among MG subjects with African genetic ancestry. Previously, using whole exome sequencing, we reported potentially functional variants w...

journal_title：Orphanet journal of rare diseases

authors： Nel M,Prince S,Heckmann JM

更新日期：2019-01-29 00:00:00

abstract：:Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in...

journal_title：Orphanet journal of rare diseases

authors： Pauli RM

更新日期：2019-01-03 00:00:00

abstract：BACKGROUND:Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent uncertainty of its pathophysiological and epidemiological characteristics. The purpose of the current s...

journal_title：Orphanet journal of rare diseases

authors： Jia JL,Chen S,Sivarajah V,Stephens D,Cortez MA

更新日期：2018-11-29 00:00:00

abstract：BACKGROUND:Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible for classic galactosemia have been described to give rise to variants with con...

journal_title：Orphanet journal of rare diseases

authors： Haskovic M,Derks B,van der Ploeg L,Trommelen J,Nyakayiru J,van Loon LJC,Mackinnon S,Yue WW,Peake RWA,Zha L,Demirbas D,Qi W,Huang X,Berry GT,Achten J,Bierau J,Rubio-Gozalbo ME,Coelho AI

更新日期：2018-11-26 00:00:00

abstract：BACKGROUND:Mitochondrial disease (MD) is a heterogeneous group of disorders characterized by impaired energy production caused by abnormal oxidative phosphorylation. Diagnosis of MD is challenging given the variability in how the disease can affect an individual's neurologic, cardiovascular, ophthalmologic, or gastroen...

journal_title：Orphanet journal of rare diseases

authors： Cohen B,Balcells C,Hotchkiss B,Aggarwal K,Karaa A

更新日期：2018-11-22 00:00:00

abstract：BACKGROUND:Alleviating the burden of rare diseases requires research into new diagnostic and therapeutic strategies. We undertook a systematic review to identify and compare the impact of stand-alone registries, registries with biobanks, and rare disease biobanks on research outcomes in rare diseases. METHODS:A system...

journal_title：Orphanet journal of rare diseases

authors： Garcia M,Downs J,Russell A,Wang W

更新日期：2018-11-12 00:00:00

abstract：BACKGROUND:Orphan drug development faces numerous challenges, including low disease prevalence, patient population heterogeneity, and strong presence of paediatric patient populations. Consequently, clinical trials for orphan drugs are often smaller than those of non-orphan drugs, and they require the development of ef...

journal_title：Orphanet journal of rare diseases

authors： Day S,Jonker AH,Lau LPL,Hilgers RD,Irony I,Larsson K,Roes KC,Stallard N

更新日期：2018-11-06 00:00:00

abstract：OBJECTIVE:High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneuropathy (AMN) by HRUS. METHODS:Thirteen adults with genetically proven AMN were examined using the Ultr...

journal_title：Orphanet journal of rare diseases

authors： Rattay TW,Just J,Röben B,Hengel H,Schüle R,Synofzik M,Söhn AS,Winter N,Dammeier N,Schöls L,Grimm A

更新日期：2018-11-03 00:00:00

abstract：BACKGROUND:A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme. The model was based upon the UK National Health Service (NHS) Newborn Blood Spot Screening Programme ...

journal_title：Orphanet journal of rare diseases

authors： Bessey A,Chilcott JB,Leaviss J,Sutton A

更新日期：2018-10-11 00:00:00