Monoclonal antibodies to 65kDa glutamate decarboxylase induce epitope specific effects on motor and cognitive functions in rats.

abstract：BACKGROUND:Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is difficult and international co-...

journal_title：Orphanet journal of rare diseases

authors： von Schnurbein J,Adams C,Akinci B,Ceccarini G,D'Apice MR,Gambineri A,Hennekam RCM,Jeru I,Lattanzi G,Miehle K,Nagel G,Novelli G,Santini F,Santos Silva E,Savage DB,Sbraccia P,Schaaf J,Sorkina E,Tanteles G,Vantyghem MC

更新日期：2020-01-15 00:00:00

abstract：BACKGROUND:Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of alveolar hemorrhage in children and its pathophysiology remains obscure. Classically, diagnosis is based on a triad including hemoptysis, diffuse parenchymal infiltrates on chest X-rays, and iron-deficiency anemia. We present the French pediatric co...

journal_title：Orphanet journal of rare diseases

authors： Taytard J,Nathan N,de Blic J,Fayon M,Epaud R,Deschildre A,Troussier F,Lubrano M,Chiron R,Reix P,Cros P,Mahloul M,Michon D,Clement A,Corvol H,French RespiRare® group.

更新日期：2013-10-14 00:00:00

abstract：BACKGROUND:IgG replacement therapy (IgRT) in primary immunodeficiencies (PID) is a lifelong treatment which may be administered intravenously (IVIg) or subcutaneously (SCIg), at hospital or at home. The objective of the VISAGE study was to investigate if route and/or place for IgRT impact patients' satisfaction regardi...

journal_title：Orphanet journal of rare diseases

authors： Bienvenu B,Cozon G,Hoarau C,Pasquet M,Cherin P,Clerson P,Hachulla E,Crave JC,Delain JC,Jaussaud R

更新日期：2016-06-22 00:00:00

abstract：BACKGROUND:Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents a...

journal_title：Orphanet journal of rare diseases

authors： Serrano M,de Diego V,Muchart J,Cuadras D,Felipe A,Macaya A,Velázquez R,Poo MP,Fons C,O'Callaghan MM,García-Cazorla A,Boix C,Robles B,Carratalá F,Girós M,Briones P,Gort L,Artuch R,Pérez-Cerdá C,Jaeken J,Pérez B,P

更新日期：2015-10-26 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：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：BACKGROUND:Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving the detection rate for AATD is therefore a high priority for the Alpha-1 Foundation. A workshop was h...

journal_title：Orphanet journal of rare diseases

authors： Brantly M,Campos M,Davis AM,D'Armiento J,Goodman K,Hanna K,O'Day M,Queenan J,Sandhaus R,Stoller J,Strange C,Teckman J,Wanner A

更新日期：2020-04-19 00:00:00

abstract：:Huntington's disease (HD) is a progressive neurodegenerative hereditary disease clinically characterised by the presence of involuntary movements, behavioural problems and cognitive decline. The disease-onset is usually between 30 and 50 years of age. HD is a rare disorder affecting approximately 1.3 in 10,000 people ...

journal_title：Orphanet journal of rare diseases

authors： Marelli C,Maschat F

更新日期：2016-03-17 00:00:00

abstract：BACKGROUND:Hunter syndrome (mucopolysaccharidosis type II (MPS II)) is a rare metabolic disease that can severely compromise health, well-being and life expectancy. Little evidence has been published on the impact of MPS II on health-related quality of life (HRQL). The objective of this study was to describe this impac...

journal_title：Orphanet journal of rare diseases

authors： Raluy-Callado M,Chen WH,Whiteman DA,Fang J,Wiklund I

更新日期：2013-07-10 00:00:00

abstract：:Pompe disease/glycogen storage disease type II, is a rare, lysosomal storage disorder associated with progressive proximal myopathy, causing a gradual loss of muscular function and respiratory insufficiency. Studies of patients with late-onset Pompe disease have used endpoints such as the 6-minute walking test (6MWT) ...

journal_title：Orphanet journal of rare diseases

authors： Lachmann R,Schoser B

更新日期：2013-10-12 00:00:00

abstract：BACKGROUND:Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Level of cleavage in the skin, clinical features with immunofluorescence antigen mapping and/or electron...

journal_title：Orphanet journal of rare diseases

authors： Montaudié H,Chiaverini C,Sbidian E,Charlesworth A,Lacour JP

更新日期：2016-08-20 00:00:00

abstract：:Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, which evolved over nine years. Symptoms started in the left hand and slowly involved the four limbs. Investi...

journal_title：Orphanet journal of rare diseases

authors： Camdessanché JP,Belzil VV,Jousserand G,Rouleau GA,Créac'h C,Convers P,Antoine JC

更新日期：2011-02-05 00:00:00

abstract：BACKGROUND:Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especially the contribution of glial cells and gliosis to the progression of NPC1, are controversially dis...

journal_title：Orphanet journal of rare diseases

authors： Peter F,Rost S,Rolfs A,Frech MJ

更新日期：2017-08-25 00:00:00

abstract：:Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis...

journal_title：Orphanet journal of rare diseases

authors： Levitt MA,Peña A

更新日期：2007-07-26 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:The clinical course of Cystic Fibrosis (CF) is usually measured using the percent predicted FEV(1) and BMI Z-score referenced against a healthy population, since achieving normality is the ultimate goal of CF care. Referencing against age and sex matched CF peers may provide valuable information for patients...

journal_title：Orphanet journal of rare diseases

authors： Boëlle PY,Viviani L,Busson PF,Olesen HV,Ravilly S,Stern M,Assael BM,Barreto C,Drevinek P,Thomas M,Krivec U,Mei-Zahav M,Vibert JF,Clement A,Mehta A,Corvol H,French CF Modifier Gene Study Investigators.,European CF Regist

更新日期：2012-09-07 00:00:00

abstract：BACKGROUND:This study describes the natural history of Barth syndrome (BTHS). METHODS:The medical records of all patients with BTHS living in France were identified in multiple sources and reviewed. RESULTS:We identified 16 BTHS pedigrees that included 22 patients. TAZ mutations were observed in 15 pedigrees. The est...

journal_title：Orphanet journal of rare diseases

authors： Rigaud C,Lebre AS,Touraine R,Beaupain B,Ottolenghi C,Chabli A,Ansquer H,Ozsahin H,Di Filippo S,De Lonlay P,Borm B,Rivier F,Vaillant MC,Mathieu-Dramard M,Goldenberg A,Viot G,Charron P,Rio M,Bonnet D,Donadieu J

更新日期：2013-05-08 00:00:00

abstract：:Paediatric chordomas are rare malignant tumours arising from primitive notochordal remnants with a high rate of recurrence. Only 5 % of them occur in the first two decades such less than 300 paediatric cases have been reported so far in the literature. In children, the average age at diagnosis is 10 years with a male-...

journal_title：Orphanet journal of rare diseases

authors： Beccaria K,Sainte-Rose C,Zerah M,Puget S

更新日期：2015-09-22 00:00:00

abstract：BACKGROUND:Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitudinal data on functional disease progression and safety observations in...

journal_title：Orphanet journal of rare diseases

authors： Patterson MC,Mengel E,Vanier MT,Schwierin B,Muller A,Cornelisse P,Pineda M,NPC Registry investigators.

更新日期：2015-05-28 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: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：:The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities--the classical hyper-IgE syndrome which is inherited in an au...

journal_title：Orphanet journal of rare diseases

authors： Szczawinska-Poplonyk A,Kycler Z,Pietrucha B,Heropolitanska-Pliszka E,Breborowicz A,Gerreth K

更新日期：2011-11-15 00:00:00

abstract：:IgA pemphigus is an exceedingly rare autoimmune blistering disorder, caused by IgA autoantibodies against desmosomal proteins. No treatment option has been found to be universally effective. The disease is often recalcitrant to oral steroids and immunosuppressants. Here, we describe the use of systemic retinoids for t...

journal_title：Orphanet journal of rare diseases

authors： Schauer F,Kern JS,Kiritsi D

更新日期：2018-09-18 00:00:00

abstract：:The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in one of 14 different genes that share common clinical and pathological etiologies. Clinically, the diseases ar...

journal_title：Orphanet journal of rare diseases

authors： Geraets RD,Koh Sy,Hastings ML,Kielian T,Pearce DA,Weimer JM

更新日期：2016-04-16 00:00:00

abstract：BACKGROUND:The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). RESULTS:Here, we report on a subject who pr...

journal_title：Orphanet journal of rare diseases

authors： Vantroys E,Smet J,Vanlander AV,Vergult S,De Bruyne R,Roels F,Stepman H,Roeyers H,Menten B,Van Coster R

更新日期：2018-05-21 00:00:00

abstract：BACKGROUND:Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). Mutations in the two gene...

journal_title：Orphanet journal of rare diseases

authors： Beech CM,Liyanarachchi S,Shah NP,Sturm AC,Sadiq MF,de la Chapelle A,Tanner SM

更新日期：2011-11-13 00:00:00

abstract：BACKGROUND:Prader-Willi syndrome (PWS) is often related to severe obesity and type-2 diabetes mellitus (T2DM). However, few studies, and none in Korea, have examined prevalence of T2DM and other variables in PWS. The aim of this study was to identify the prevalence and associated risk factors for T2DM in Korean patient...

journal_title：Orphanet journal of rare diseases

authors： Yang A,Kim J,Cho SY,Jin DK

更新日期：2017-08-30 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:Fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) is a form of tumor progression of dermatofibrosarcoma protuberans (DFSP) with an increased risk of metastasis and recurrence. Few studies have compared the clinicopathological features of FS-DFSP and conventional DFSP (C-DFSP). OBJECTIVES:To better ...

journal_title：Orphanet journal of rare diseases

authors： Li Y,Liang J,Xu X,Jiang X,Wang C,Chen S,Xiang B,Ji Y

更新日期：2021-01-26 00:00:00

abstract：:Among the challenges confronting patients with rare diseases is a dearth of treatment options. The development of safe and effective new therapies is hampered by challenges associated with conducting clinical trials in small populations. In this article, we describe how the Duchenne muscular dystrophy community-led by...

journal_title：Orphanet journal of rare diseases

authors： Furlong P,Bridges JF,Charnas L,Fallon JR,Fischer R,Flanigan KM,Franson TR,Gulati N,McDonald C,Peay H,Sweeney HL

更新日期：2015-06-24 00:00:00