Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis.

abstract：BACKGROUND:Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait, sensory deficits and bladder dysfunctions. A skewing in X Chromosome Inactivation (XCI), leading to the preferential expression of the X chromosome carrying...

journal_title：Orphanet journal of rare diseases

authors： Salsano E,Tabano S,Sirchia SM,Colapietro P,Castellotti B,Gellera C,Rimoldi M,Pensato V,Mariotti C,Pareyson D,Miozzo M,Uziel G

更新日期：2012-01-26 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：:Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microceph...

journal_title：Orphanet journal of rare diseases

authors： Byrne S,Dionisi-Vici C,Smith L,Gautel M,Jungbluth H

更新日期：2016-02-29 00:00:00

abstract：BACKGROUND:Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6-8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In t...

journal_title：Orphanet journal of rare diseases

authors： Baldo C,Casareto L,Renieri A,Merla G,Garavaglia B,Goldwurm S,Pegoraro E,Moggio M,Mora M,Politano L,Sangiorgi L,Mazzotti R,Viotti V,Meloni I,Pellico MT,Barzaghi C,Wang CM,Monaco L,Filocamo M

更新日期：2016-10-24 00:00:00

abstract：BACKGROUND:Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient's quality of life (QOL). The aim of this study was t...

journal_title：Orphanet journal of rare diseases

authors： Hatano T,Ohno Y,Imai Y,Moritake J,Endo K,Tamari M,Egawa S

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is often very difficult to perform in these patients. The aim of the study was to use cardiac magnetic r...

journal_title：Orphanet journal of rare diseases

authors： Panovský R,Pešl M,Máchal J,Holeček T,Feitová V,Juříková L,Masárová L,Pešlová E,Opatřil L,Mojica-Pisciotti ML,Kincl V

更新日期：2021-01-30 00:00:00

abstract：BACKGROUND:Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, motor defi...

journal_title：Orphanet journal of rare diseases

authors： Cannet C,Pilotto A,Rocha JC,Schäfer H,Spraul M,Berg D,Nawroth P,Kasperk C,Gramer G,Haas D,Piel D,Kölker S,Hoffmann G,Freisinger P,Trefz F

更新日期：2020-02-27 00:00:00

abstract：BACKGROUND:In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogenic mutation. The purpose of this study is to identify the cardiac pathologic characteristics in patie...

journal_title：Orphanet journal of rare diseases

authors： Hsu TR,Sung SH,Chang FP,Yang CF,Liu HC,Lin HY,Huang CK,Gao HJ,Huang YH,Liao HC,Lee PC,Yang AH,Chiang CC,Lin CY,Yu WC,Niu DM

更新日期：2014-07-01 00:00:00

abstract：:Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains ni...

journal_title：Orphanet journal of rare diseases

authors： Nie S,Chen G,Cao X,Zhang Y

更新日期：2014-11-26 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:Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone. Accordingly, approval of sapropterin in the European Union was extended in 2015 to include patients aged 0-4 years, bringing th...

journal_title：Orphanet journal of rare diseases

authors： Muntau AC,du Moulin M,Feillet F

更新日期：2018-09-29 00:00:00

abstract：BACKGROUND:Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are hete...

journal_title：Orphanet journal of rare diseases

authors： Mauhin W,Habarou F,Gobin S,Servais A,Brassier A,Grisel C,Roda C,Pinto G,Moshous D,Ghalim F,Krug P,Deltour N,Pontoizeau C,Dubois S,Assoun M,Galmiche L,Bonnefont JP,Ottolenghi C,de Blic J,Arnoux JB,de Lonlay P

更新日期：2017-01-05 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:Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10...

journal_title：Orphanet journal of rare diseases

authors： Ravn K,Roende G,Duno M,Fuglsang K,Eiklid KL,Tümer Z,Nielsen JB,Skjeldal OH

更新日期：2011-08-30 00:00:00

abstract：BACKGROUND:Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The study aims to provide epidemiologic data and to describe the disease manifesta...

journal_title：Orphanet journal of rare diseases

authors： Nettesheim S,Kölker S,Karall D,Häberle J,Posset R,Hoffmann GF,Heinrich B,Gleich F,Garbade SF,Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IM

更新日期：2017-06-15 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: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：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:Rapamycin has gained significant attention for its potential activity in reducing the size of TSC-associated tumors, thus providing alternative to surgery. This study aimed at determining the efficacy of rapamycin and rapalogs for reducing the size of TSC-associated solid tumors in patients with Tuberous Scl...

journal_title：Orphanet journal of rare diseases

authors： Sasongko TH,Ismail NF,Nik Abdul Malik NM,Zabidi-Hussin ZA

更新日期：2015-08-12 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：:Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations of the RAB3GAP1 (RAB3 GTPase-activating protein 1), RAB3GAP2, RAB18 (RAS-associated protein RAB18), or TBC1D20 ...

journal_title：Orphanet journal of rare diseases

authors： Picker-Minh S,Busche A,Hartmann B,Spors B,Klopocki E,Hübner C,Horn D,Kaindl AM

更新日期：2014-10-21 00:00:00

abstract：BACKGROUND:Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects ...

journal_title：Orphanet journal of rare diseases

authors： Széll N,Fehér T,Maróti Z,Kalmár T,Latinovics D,Nagy I,Orosz ZZ,Janáky M,Facskó A,Sohajda Z

更新日期：2021-01-22 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：:Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of the first causative gene in 1997 was rapidly followed by the identification of many others from the same gro...

journal_title：Orphanet journal of rare diseases

authors： Touitou I,Galeotti C,Rossi-Semerano L,Hentgen V,Piram M,Koné-Paut I,CeRéMAI, French reference center for autoinflammatory diseases.

更新日期：2013-10-16 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：BACKGROUND:Müllerian aplasia (MA) characterized by congenital loss of functional uterus and vagina is one of the most difficult disorders of female reproductive health. Despite of growing interest in this research field, the cause of the disorder for the majority of patients is still unknown. A recent report of partial...

journal_title：Orphanet journal of rare diseases

authors： Sandbacka M,Halttunen M,Jokimaa V,Aittomäki K,Laivuori H

更新日期：2011-08-02 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:Rare diseases can lead to a significant reduction in quality of life for patients and their families. Ensuring the patients voice is central to clinical decision making is key to delivering, evaluating and understanding the efficacy of therapeutic interventions. Patient reported outcome measures (PROMs) are ...

journal_title：Orphanet journal of rare diseases

authors： Slade A,Isa F,Kyte D,Pankhurst T,Kerecuk L,Ferguson J,Lipkin G,Calvert M

更新日期：2018-04-23 00:00:00

abstract：BACKGROUND:Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because only some of the features observed during natural aging are accelerated. METHODS:Since 2015, the M...

journal_title：Orphanet journal of rare diseases

authors： Grelet M,Blanck V,Sigaudy S,Philip N,Giuliano F,Khachnaoui K,Morel G,Grotto S,Sophie J,Poirsier C,Lespinasse J,Alric L,Calvas P,Chalhoub G,Layet V,Molin A,Colson C,Marsili L,Edery P,Lévy N,De Sandre-Giovannoli A

更新日期：2019-12-11 00:00:00

abstract：BACKGROUND:Nineteen patients with deletions in chromosome 6p22-p24 have been published so far. The syndromic phenotype is varied, and includes intellectual disability, behavioural abnormalities, dysmorphic features and structural organ defects. Heterogeneous deletion breakpoints and sizes (1-17 Mb) and overlapping phen...

journal_title：Orphanet journal of rare diseases

authors： Barøy T,Misceo D,Strømme P,Stray-Pedersen A,Holmgren A,Rødningen OK,Blomhoff A,Helle JR,Stormyr A,Tvedt B,Fannemel M,Frengen E

更新日期：2013-01-07 00:00:00