Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications.

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：: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:Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 differe...

journal_title：Orphanet journal of rare diseases

authors： Zhytnik L,Simm K,Salumets A,Peters M,Märtson A,Maasalu K

更新日期：2020-05-27 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：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：BACKGROUND:Behçet's Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patients' quality of life. Other clinical manifestations include ocular inflammation, rheumatologic and ski...

journal_title：Orphanet journal of rare diseases

authors： Senusi A,Seoudi N,Bergmeier LA,Fortune F

更新日期：2015-09-22 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: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：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:Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL). METHODS:This patient-reported outcomes survey evaluated the global burden of Morquio A among adults (≥18 years, N = 27) and chi...

journal_title：Orphanet journal of rare diseases

authors： Hendriksz CJ,Lavery C,Coker M,Ucar SK,Jain M,Bell L,Lampe C

更新日期：2014-03-07 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

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:Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the...

journal_title：Orphanet journal of rare diseases

authors： Semeraro M,Sacchetti E,Deodato F,Coşkun T,Lay I,Catesini G,Olivieri G,Rizzo C,Boenzi S,Dionisi-Vici C

更新日期：2021-01-09 00:00:00

abstract：:Malignant mesothelioma is a fatal asbestos-associated malignancy originating from the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as the pericardium and the tunica vaginalis. The exact prevalence is unknown but it is estimated that mesotheliomas represent less than 1% of all cancers. Its...

journal_title：Orphanet journal of rare diseases

authors： Moore AJ,Parker RJ,Wiggins J

更新日期：2008-12-19 00:00:00

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：:An amendment to this paper has been published and can be accessed via the original article. ...

journal_title：Orphanet journal of rare diseases

authors： Opladen T,López-Laso E,Cortès-Saladelafont E,Pearson TS,Sivri HS,Yildiz Y,Assmann B,Kurian MA,Leuzzi V,Heales S,Pope S,Porta F,García-Cazorla A,Honzík T,Pons R,Regal L,Goez H,Artuch R,Hoffmann GF,Horvath G,Thöny B

更新日期：2020-08-05 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：:China is facing the great challenge of serving the world's largest rare disease population. It is necessary to develop a specific medical plan to increase the levels of optimal prevention, diagnosis and treatment of rare diseases under the existing clinical service structures in China. In 2013, China launched its firs...

journal_title：Orphanet journal of rare diseases

authors： Cui Y,Zhou X,Han J

更新日期：2014-01-27 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:Skin neurofibromas represent one of the main clinical manifestations of neurofibromatosis 1, and their number varies greatly between individuals. Quantifying their number is an important step in the methodology of many clinical studies, but counting neurofibromas one by one in individuals with thousands of t...

journal_title：Orphanet journal of rare diseases

authors： Cunha KS,Rozza-de-Menezes RE,Andrade RM,Theos A,Luiz RR,Korf B,Geller M

更新日期：2014-12-05 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: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: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:Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the QoL of children with SMA and their caregivers and to identify the factors associated with QoL in a ...

journal_title：Orphanet journal of rare diseases

authors： Yao M,Ma Y,Qian R,Xia Y,Yuan C,Bai G,Mao S

更新日期：2021-01-06 00:00:00

abstract：:In 1581 Rembert Dodoens wrote "Medicinalium observationum exempla rara, recognita et aucta" a Latin book about the diagnosis and treatment of disorders with a low prevalence. ...

journal_title：Orphanet journal of rare diseases

authors： Dooms MM

更新日期：2015-12-21 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:The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondylometaphyseal dysplasia Kozlowski type (SMDK) and metatropic dysplasia (MD) are...

journal_title：Orphanet journal of rare diseases

authors： Andreucci E,Aftimos S,Alcausin M,Haan E,Hunter W,Kannu P,Kerr B,McGillivray G,McKinlay Gardner RJ,Patricelli MG,Sillence D,Thompson E,Zacharin M,Zankl A,Lamandé SR,Savarirayan R

更新日期：2011-06-09 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: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