Systemic retinoids for treatment of recalcitrant IgA pemphigus.

abstract：BACKGROUND:Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides. The phenotypic spectrum is diverse, ranging from severe, neonatal onset failure to thrive, hep...

journal_title：Orphanet journal of rare diseases

authors： Pritchard AB,Strong A,Ficicioglu C

更新日期：2020-02-24 00:00:00

abstract：BACKGROUND:Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and pat...

journal_title：Orphanet journal of rare diseases

authors： Guillén-Navarro E,Domingo-Jiménez MR,Alcalde-Martín C,Cancho-Candela R,Couce ML,Galán-Gómez E,Alonso-Luengo O

更新日期：2013-06-25 00:00:00

abstract：BACKGROUND:Mitochondrial disorders are a clinically, biochemically and genetically heterogeneous group of multi-system diseases, with an unmet medical need for treatment. KH176 is an orally bio-available small molecule under development for the treatment of mitochondrial(-related) diseases. The compound is a member of ...

journal_title：Orphanet journal of rare diseases

authors： Koene S,Spaans E,Van Bortel L,Van Lancker G,Delafontaine B,Badilini F,Beyrath J,Smeitink J

更新日期：2017-10-16 00:00:00

abstract：BACKGROUND:Epidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Several clinical phenotypes have been described, but subepidermal blistering is characteristic of all variants. Limited data on clinical and immunopathological characteristics and treatment outcomes in EBA are available. To fill this gap,...

journal_title：Orphanet journal of rare diseases

authors： Iwata H,Vorobyev A,Koga H,Recke A,Zillikens D,Prost-Squarcioni C,Ishii N,Hashimoto T,Ludwig RJ

更新日期：2018-09-04 00:00:00

abstract：BACKGROUND:Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculo...

journal_title：Orphanet journal of rare diseases

authors： Kromann AB,Ousager LB,Ali IKM,Aydemir N,Bygum A

更新日期：2018-03-05 00:00:00

abstract：BACKGROUND:Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most of the IMDs are inherited in an autosomal recessive manner. The incidence of IMDs varies from country to country and within different ethnic groups, b...

journal_title：Orphanet journal of rare diseases

authors： Hazan G,Hershkovitz E,Staretz-Chacham O

更新日期：2020-11-25 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 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: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:Most orphan drugs do not meet traditional standards of cost-effectiveness. Yet, most orphan drugs are reimbursed, which implies that other factors are taken into account at the time of reimbursement. To increase accountability of decision-makers, there is a need for more transparency in the factors that play...

journal_title：Orphanet journal of rare diseases

authors： Picavet E,Cassiman D,Simoens S

更新日期：2014-09-12 00:00:00

abstract：INTRODUCTION:The European principles of care in haemophilia marked their first decade in 2018. These guiding principles were the beginning of the European Haemophilia Consortium (EHC) review of countries' adherence to these principles in 2009, 2012, 2015 and 2018. The aim of this paper was to examine the implementation...

journal_title：Orphanet journal of rare diseases

authors： Noone D,O'Mahony B,Peyvandi F,Makris M,Bok A

更新日期：2020-07-13 00:00:00

abstract：BACKGROUND:PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. METHODS:Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 ...

journal_title：Orphanet journal of rare diseases

authors： Bar C,Diene G,Molinas C,Bieth E,Casper C,Tauber M

更新日期：2017-06-28 00:00:00

abstract：OBJECTIVE:NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, there is no standard for the management of primary pulmonary NMC. This study aimed to confirm the clinic...

journal_title：Orphanet journal of rare diseases

authors： Xie XH,Wang LQ,Qin YY,Lin XQ,Xie ZH,Liu M,Zhang JX,Ouyang M,Liu J,Gu YY,Li SY,Zhou CZ

更新日期：2020-07-10 00:00:00

abstract：:Microvillous inclusion disease (MVID) or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by morphological enterocyte abnormalities. MVID manifests either in the first days of life (early-onset form) or ...

journal_title：Orphanet journal of rare diseases

authors： Ruemmele FM,Schmitz J,Goulet O

更新日期：2006-06-26 00:00:00

abstract：BACKGROUND:Major haemoglobinopathies (MH), such as thalassaemia syndromes (Thal) and sickle cell disorders (SCD), are genetic defects associated with chronic anaemia and other complications. In Europe, MH are rare diseases (RD) but their prevalence is significantly growing in many countries due to mobility and migratio...

journal_title：Orphanet journal of rare diseases

authors： Aguilar Martinez P,Angastiniotis M,Eleftheriou A,Gulbis B,Mañú Pereira Mdel M,Petrova-Benedict R,Corrons JL

更新日期：2014-07-01 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:Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification caused by a highly recurrent R206H mutation in ACVR1/ALK2. This mutation causes ...

journal_title：Orphanet journal of rare diseases

authors： Kou S,De Cunto C,Baujat G,Wentworth KL,Grogan DR,Brown MA,Di Rocco M,Keen R,Al Mukaddam M,le Quan Sang KH,Masharani U,Kaplan FS,Pignolo RJ,Hsiao EC

更新日期：2020-07-29 00:00:00

abstract：BACKGROUND:Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life. In this study we evaluate quality of life in patients with fibrous dysplasia using the Short Form-36 and the Brief Pain Inventory questionnaires. Data were com...

journal_title：Orphanet journal of rare diseases

authors： Majoor BCJ,Andela CD,Bruggemann J,van de Sande MAJ,Kaptein AA,Hamdy NAT,Dijkstra PDS,Appelman-Dijkstra NM

更新日期：2017-04-27 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: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:Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the dentition. The disease is life-threatening when manifesting withi...

journal_title：Orphanet journal of rare diseases

authors： Rush ET

更新日期：2018-07-16 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: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：:Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence of JSRD ra...

journal_title：Orphanet journal of rare diseases

authors： Brancati F,Dallapiccola B,Valente EM

更新日期：2010-07-08 00:00:00

abstract：:Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000-8000 individuals worldwide. This rare disease is characterized by various vascular defects including epistaxis, blood vessel dilations (telangiectasia) and arteriovenous malformations (AV...

journal_title：Orphanet journal of rare diseases

authors： Robert F,Desroches-Castan A,Bailly S,Dupuis-Girod S,Feige JJ

更新日期：2020-01-07 00:00:00

abstract：UNLABELLED:Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis with severe blistering. No curative treatment is available. Scientific data indicated that epigallocatechin-3-gallate (EGCG), a green tea extract, might improve the phenotype of RDEB patients. In a multicentre, randomized, crossover, ...

journal_title：Orphanet journal of rare diseases

authors： Chiaverini C,Roger C,Fontas E,Bourrat E,Bourdon-Lanoy E,Labrèze C,Mazereeuw J,Vabres P,Bodemer C,Lacour JP

更新日期：2016-03-25 00:00:00

abstract：BACKGROUND:Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors ...

journal_title：Orphanet journal of rare diseases

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

更新日期：2016-11-08 00:00:00

abstract：:Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevalence is found in preterm infants, especially those with low birth weight. The female to male ratio is 2:1. Most...

journal_title：Orphanet journal of rare diseases

authors： Forsey JT,Elmasry OA,Martin RP

更新日期：2009-07-10 00:00:00

abstract：BACKGROUND:We studied to what extent the level of scientific knowledge on exceptionally rare metabolic inherited diseases and their potential orphan medicinal products is associated with sponsors deciding to apply for an orphan designation at the US Food and Drug Administration (FDA) or the European Medicines Agency (E...

journal_title：Orphanet journal of rare diseases

authors： Putzeist M,Mantel-Teeuwisse AK,Wied CC,Hoes AW,Leufkens HG,de Vrueh RL

更新日期：2013-11-15 00:00:00

abstract：BACKGROUND:Glutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited number of countries rec...

journal_title：Orphanet journal of rare diseases

authors： Pfeil J,Listl S,Hoffmann GF,Kölker S,Lindner M,Burgard P

更新日期：2013-10-17 00:00:00