The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community.

abstract：BACKGROUND:Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive progressive multiorgan disorder due to mutation in the gene encoding the enzyme Arylsulfatase B (ARSB). Dysfunctional ARSB causes lysosomal accumulation of glycosaminoglycans (GAG). Currently, enzyme replacement therapy (ERT) is preferred to hematop...

journal_title：Orphanet journal of rare diseases

authors： Jester S,Larsson J,Eklund EA,Papadopoulou D,Månsson JE,Békássy AN,Turkiewicz D,Toporski J,Øra I

更新日期：2013-09-05 00:00:00

abstract：BACKGROUND:Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a lesser extent MADH4 and GDF2, which encode proteins involved in the TGF-β/BMP9 signaling pathway. C...

journal_title：Orphanet journal of rare diseases

authors： Giraud S,Bardel C,Dupuis-Girod S,Carette MF,Gilbert-Dussardier B,Riviere S,Saurin JC,Eyries M,Patri S,Decullier E,Calender A,Lesca G

更新日期：2020-09-22 00:00:00

abstract：:The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders have triggered the search for clinically relevant biomarkers and clinical markers associated with ...

journal_title：Orphanet journal of rare diseases

authors： Hendriksz CJ,Berger KI,Lampe C,Kircher SG,Orchard PJ,Southall R,Long S,Sande S,Gold JI

更新日期：2016-08-26 00:00:00

abstract：:Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical...

journal_title：Orphanet journal of rare diseases

authors： Natale V,Raquer H

更新日期：2017-04-04 00:00:00

abstract：BACKGROUND:The activation of plasma enzyme systems contributes to hereditary angioedema attacks. We aimed to study the activation markers of the fibrinolytic, coagulation, and contact systems in a larger number of paired samples obtained from the same C1-INH-HAE patients in symptom-free periods and during attacks. MET...

journal_title：Orphanet journal of rare diseases

authors： Csuka D,Veszeli N,Imreh É,Zotter Z,Skopál J,Prohászka Z,Varga L,Farkas H

更新日期：2015-10-09 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:The small cell ovarian carcinoma of the hypercalcemic type (SCCOHT) which preferably affects young women during regenerative age represents a rare and aggressive form of ovarian tumors with poor prognosis and lacks an efficient therapy. METHODS AND RESULTS:In vitro chemotherapy testing in a fluorescence ass...

journal_title：Orphanet journal of rare diseases

authors： Otte A,Rauprich F,Hillemanns P,Park-Simon TW,von der Ohe J,Hass R

更新日期：2014-08-08 00:00:00

abstract：:Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000-40...

journal_title：Orphanet journal of rare diseases

authors： Goulet O,Vinson C,Roquelaure B,Brousse N,Bodemer C,Cézard JP

更新日期：2008-02-28 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:Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized. PATIENTS AND METHODS:Here...

journal_title：Orphanet journal of rare diseases

authors： Leoni C,Romeo DM,Pelliccioni M,Di Già M,Onesimo R,Giorgio V,Flex E,Tedesco M,Tartaglia M,Rigante D,Valassina A,Zampino G

更新日期：2021-01-22 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

abstract：BACKGROUND:Hepatic macrophage (Kupffer cell) hyperplasia is often described in Wilson's disease (WD). In many liver diseases, Kupffer cell activation is related to disease severity, liver function, and fibrosis but the importance in WD is unknown. Kupffer cell activation can be assessed by the P-concentration of solubl...

journal_title：Orphanet journal of rare diseases

authors： Björklund J,Laursen TL,Sandahl TD,Møller HJ,Vilstrup H,Ott P,Grønbæk H

更新日期：2018-09-21 00:00:00

abstract：BACKGROUND:This study was conducted to identify potential biomarkers that could be used to evaluate disease progression and monitor responses to enzyme replacement therapy (ERT) in patients with mucopolysaccharidosis (MPS) IVA. METHODS:Levels of 88 candidate biomarkers were compared in plasma samples from 50 healthy c...

journal_title：Orphanet journal of rare diseases

authors： Martell L,Lau K,Mei M,Burnett V,Decker C,Foehr ED

更新日期：2011-12-16 00:00:00

abstract：BACKGROUND:Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate (NAG) synthase. Rapid reduction in plasma ammonia is requir...

journal_title：Orphanet journal of rare diseases

authors： Valayannopoulos V,Baruteau J,Delgado MB,Cano A,Couce ML,Del Toro M,Donati MA,Garcia-Cazorla A,Gil-Ortega D,Gomez-de Quero P,Guffon N,Hofstede FC,Kalkan-Ucar S,Coker M,Lama-More R,Martinez-Pardo Casanova M,Molina A,Picha

更新日期：2016-03-31 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：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：: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: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：:Biliary atresia (BA) is a rare disease characterised by a biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age group. BA occurs in approximately 1/18,000 live births in Western Europe. In the world, the reported incidence...

journal_title：Orphanet journal of rare diseases

authors： Chardot C

更新日期：2006-07-26 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：:Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several countries and the first plant cell-expressed recombinant therapeutic protein approved by the US Food and Drug Administration for humans. Here, we review the find...

journal_title：Orphanet journal of rare diseases

authors： Zimran A,Wajnrajch M,Hernandez B,Pastores GM

更新日期：2018-02-23 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：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: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: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:Many genetic diseases are due to defects in protein trafficking where the mutant protein is recognized by the quality control systems, retained in the endoplasmic reticulum (ER), and degraded by the proteasome. In many cases, the mutant protein retains function if it can be trafficked to its proper cellular ...

journal_title：Orphanet journal of rare diseases

authors： Sampson HM,Lam H,Chen PC,Zhang D,Mottillo C,Mirza M,Qasim K,Shrier A,Shyng SL,Hanrahan JW,Thomas DY

更新日期：2013-01-14 00:00:00

abstract：BACKGROUND:While skin carcinomas are reported in chronic ulcers and in patients treated with hydroxyurea (HU) for myeloproliferative neoplasms, no skin carcinoma has been reported in patients with sickle cell disease (SCD), presenting chronic skin ulcers or treated with HU. The objective was to estimate the risk of cut...

journal_title：Orphanet journal of rare diseases

authors： Soutou B,Senet P,Lionnet F,Habibi A,Aractingi S

更新日期：2020-03-06 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:The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for patients with ATTR cardiomyopathy. However, the outcome of surgically obtained fat pad biopsies has...

journal_title：Orphanet journal of rare diseases

authors： Paulsson Rokke H,Sadat Gousheh N,Westermark P,Suhr OB,Anan I,Ihse E,Pilebro B,Wixner J

更新日期：2020-10-08 00:00:00

abstract：BACKGROUND:Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and behavioural problems, particularly disruptive behaviours and frequent temper outbursts that preclude s...

journal_title：Orphanet journal of rare diseases

authors： Tauber M,Mantoulan C,Copet P,Jauregui J,Demeer G,Diene G,Rogé B,Laurier V,Ehlinger V,Arnaud C,Molinas C,Thuilleaux D

更新日期：2011-06-24 00:00:00