Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.

abstract：BACKGROUND:Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and is also associated with autism spectrum disorders. Previous studies implicated BKCa channels in the neuropathogenesis of FXS, but the main question was whether pharmacological BKCa stimulation would be able to rescue FX...

journal_title：Orphanet journal of rare diseases

authors： Hébert B,Pietropaolo S,Même S,Laudier B,Laugeray A,Doisne N,Quartier A,Lefeuvre S,Got L,Cahard D,Laumonnier F,Crusio WE,Pichon J,Menuet A,Perche O,Briault S

更新日期：2014-08-01 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：: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：:Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many critical roles in the human organism. A defect in GLUL, encoding for GS, leads to congenital systemic glutamine d...

journal_title：Orphanet journal of rare diseases

authors： Häberle J,Shahbeck N,Ibrahim K,Schmitt B,Scheer I,O'Gorman R,Chaudhry FA,Ben-Omran T

更新日期：2012-07-25 00:00:00

abstract：BACKGROUND:Alleviating the burden of rare diseases requires research into new diagnostic and therapeutic strategies. We undertook a systematic review to identify and compare the impact of stand-alone registries, registries with biobanks, and rare disease biobanks on research outcomes in rare diseases. METHODS:A system...

journal_title：Orphanet journal of rare diseases

authors： Garcia M,Downs J,Russell A,Wang W

更新日期：2018-11-12 00:00:00

abstract：BACKGROUND:McCune-Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinical and endocrine manif...

journal_title：Orphanet journal of rare diseases

authors： Cho EK,Kim J,Yang A,Ki CS,Lee JE,Cho SY,Jin DK

更新日期：2016-08-09 00:00:00

abstract：:We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D ...

journal_title：Orphanet journal of rare diseases

authors： Al Kaissi A,Grill F,Safi H,Ben Ghachem M,Ben Chehida F,Klaushofer K

更新日期：2007-01-08 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：:Since its enactment in 2000, the European Orphan Medicinal Products Regulation has allowed the review and approval of approaching 70 treatments for some 55 different conditions in Europe. Success does not come without a price, however. Many of these so-called "orphan drugs" have higher price points than treatments for...

journal_title：Orphanet journal of rare diseases

authors： Hughes-Wilson W,Palma A,Schuurman A,Simoens S

更新日期：2012-09-26 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:Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondr...

journal_title：Orphanet journal of rare diseases

authors： van Rahden VA,Rau I,Fuchs S,Kosyna FK,de Almeida HL Jr,Fryssira H,Isidor B,Jauch A,Joubert M,Lachmeijer AM,Zweier C,Moog U,Kutsche K

更新日期：2014-04-15 00:00:00

abstract：:Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 ...

journal_title：Orphanet journal of rare diseases

authors： Grønskov K,Ek J,Brondum-Nielsen K

更新日期：2007-11-02 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：BACKGROUND:Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either DAP12 or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively on osteoclasts, den...

journal_title：Orphanet journal of rare diseases

authors： Satoh J,Motohashi N,Kino Y,Ishida T,Yagishita S,Jinnai K,Arai N,Nakamagoe K,Tamaoka A,Saito Y,Arima K

更新日期：2014-05-01 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: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：: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: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：: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:Purine nucleoside analogs (PNAs) are the recommended first-line treatment for patients with hairy cell leukemia (HCL), but they are associated with adverse events (AEs). Due to a lack of real-world evidence regarding AEs that are associated with PNAs, we used commercial data to assess AE rates, AE-related he...

journal_title：Orphanet journal of rare diseases

authors： Epperla N,Pavilack M,Olufade T,Bashyal R,Li J,Kabadi SM,Yuce H,Andritsos L

更新日期：2020-02-13 00:00:00

abstract：:Infantile cholestatic diseases can be caused by mutations in a number of genes involved in different hepatocyte molecular pathways. Whilst some of the essential pathways have a well understood function, such as bile biosynthesis and transport, the role of the others is not known. Here we report the findings of a clini...

journal_title：Orphanet journal of rare diseases

authors： Morgan NV,Hartley JL,Setchell KD,Simpson MA,Brown R,Tee L,Kirkham S,Pasha S,Trembath RC,Maher ER,Gissen P,Kelly DA

更新日期：2013-05-16 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:The burden of rare diseases on society and patients' families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the management of these patients. We investigated the average annual cumul...

journal_title：Orphanet journal of rare diseases

authors： Lim SS,Lee W,Kim YK,Kim J,Park JH,Park BR,Yoon JH

更新日期：2019-02-18 00:00:00

abstract：UNLABELLED:DEFINITION OF THE DISEASE: Behçet disease (BD) is a chronic, relapsing, multisystemic disorder characterized by mucocutaneous, ocular, vascular and central nervous system manifestations. EPIDEMIOLOGY:BD seems to cluster along the ancient Silk Road, which extends from eastern Asia to the Mediterranean basin....

journal_title：Orphanet journal of rare diseases

authors： Saadoun D,Wechsler B

更新日期：2012-04-12 00:00:00

abstract：BACKGROUND:Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of h...

journal_title：Orphanet journal of rare diseases

authors： Fiorillo C,Astrea G,Savarese M,Cassandrini D,Brisca G,Trucco F,Pedemonte M,Trovato R,Ruggiero L,Vercelli L,D'Amico A,Tasca G,Pane M,Fanin M,Bello L,Broda P,Musumeci O,Rodolico C,Messina S,Vita GL,Sframeli M,Gibe

更新日期：2016-07-07 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:The purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry. METHODS:Among 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 patients with autosomal...

journal_title：Orphanet journal of rare diseases

authors： Desplantes C,Fremond ML,Beaupain B,Harousseau JL,Buzyn A,Pellier I,Roques G,Morville P,Paillard C,Bruneau J,Pinson L,Jeziorski E,Vannier JP,Picard C,Bellanger F,Romero N,de Pontual L,Lapillonne H,Lutz P,Chantelot CB

更新日期：2014-12-10 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:Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 months of life; the only available potential treatment has been hematopoietic stem cell transplantation, ...

journal_title：Orphanet journal of rare diseases

authors： Jones SA,Rojas-Caro S,Quinn AG,Friedman M,Marulkar S,Ezgu F,Zaki O,Gargus JJ,Hughes J,Plantaz D,Vara R,Eckert S,Arnoux JB,Brassier A,Le Quan Sang KH,Valayannopoulos V

更新日期：2017-02-08 00:00:00

abstract：BACKGROUND:Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS:In this review, we summar...

journal_title：Orphanet journal of rare diseases

authors： Torres-Durán M,Lopez-Campos JL,Barrecheguren M,Miravitlles M,Martinez-Delgado B,Castillo S,Escribano A,Baloira A,Navarro-Garcia MM,Pellicer D,Bañuls L,Magallón M,Casas F,Dasí F

更新日期：2018-07-11 00:00:00