Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age.

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: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:Stiff Person Syndrome (SPS) is a rare autoimmune movement disorder characterized by the presence of autoantibodies specific to the smaller isoform of glutamate decarboxylase (GAD65). A pathological role of these antibodies has been suggested by their capacity to inhibit GAD65 enzyme activity and by the obser...

journal_title：Orphanet journal of rare diseases

authors： Hampe CS,Petrosini L,De Bartolo P,Caporali P,Cutuli D,Laricchiuta D,Foti F,Radtke JR,Vidova V,Honnorat J,Manto M

更新日期：2013-06-05 00:00:00

abstract：BACKGROUND:Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutations are found in HHT1 (ENG) and HHT2 (ACVRL1) patients, causing alterations in the TGF-β pathway wh...

journal_title：Orphanet journal of rare diseases

authors： Kjeldsen A,Aagaard KS,Tørring PM,Möller S,Green A

更新日期：2016-11-22 00:00:00

abstract：BACKGROUND:Thalassaemia is a potentially life-threatening yet preventable inherited hemoglobin disorder. Understanding local socio-cultural context and level of public awareness about thalassaemia is pivotal for selecting effective prevention strategies. This study attempted to assess knowledge and perceptions about th...

journal_title：Orphanet journal of rare diseases

authors： Hossain MS,Hasan MM,Raheem E,Islam MS,Al Mosabbir A,Petrou M,Telfer P,Siddiqee MH

更新日期：2020-02-21 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: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：: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：:Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in...

journal_title：Orphanet journal of rare diseases

authors： Pauli RM

更新日期：2019-01-03 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: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：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

abstract：BACKGROUND:Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are hete...

journal_title：Orphanet journal of rare diseases

authors： Mauhin W,Habarou F,Gobin S,Servais A,Brassier A,Grisel C,Roda C,Pinto G,Moshous D,Ghalim F,Krug P,Deltour N,Pontoizeau C,Dubois S,Assoun M,Galmiche L,Bonnefont JP,Ottolenghi C,de Blic J,Arnoux JB,de Lonlay P

更新日期：2017-01-05 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：:Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem...

journal_title：Orphanet journal of rare diseases

authors： Verma AS,Fitzpatrick DR

更新日期：2007-11-26 00:00:00

abstract：:The original version of this article [1] unfortunately included an error to an author's name. Author Maja Di Rocco was erroneously presented as Maja DiRocco.The correct author name has been included in the author list of this Correction article and is already updated in the original article. ...

journal_title：Orphanet journal of rare diseases

authors： Pignolo RJ,Baujat G,Brown MA,De Cunto C,Di Rocco M,Hsiao EC,Keen R,Al Mukaddam M,Sang KLQ,Wilson A,White B,Grogan DR,Kaplan FS

更新日期：2019-05-23 00:00:00

abstract：BACKGROUND:Friedreich's Ataxia (FRDA) is a neurodegenerative disorder that causes progressive damage to the central and peripheral nervous systems having a significant impact upon quality of life. With little information in the literature, cross-sectional observational studies were conducted in the UK and Germany to co...

journal_title：Orphanet journal of rare diseases

authors： Giunti P,Greenfield J,Stevenson AJ,Parkinson MH,Hartmann JL,Sandtmann R,Piercy J,O'Hara J,Casas LR,Smith FM

更新日期：2013-02-28 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：: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: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: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:Niemann-Pick type C1 disease (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. In this lysosomal storage disorder the intracellular transport and sequestration of several lipids like cholesterol is severely impaired, resulting in an accumulation of lipids in late e...

journal_title：Orphanet journal of rare diseases

authors： Trilck M,Hübner R,Seibler P,Klein C,Rolfs A,Frech MJ

更新日期：2013-09-18 00:00:00

abstract：BACKGROUND:It is now acknowledged that the input of patients in health outcome assessment is vital to understanding the impact of diseases and interventions for those diseases. This study is the first report of patient-reported outcome measures (PROM) in a large cohort of patients with type 1 Gaucher disease (GD1) enab...

journal_title：Orphanet journal of rare diseases

authors： Dinur T,Istaiti M,Frydman D,Becker-Cohen M,Szer J,Zimran A,Revel-Vilk S

更新日期：2020-10-13 00:00:00

abstract：BACKGROUND:Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson's disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of PD may be preceded by many non-motor symptoms (NMS), which include hyposm...

journal_title：Orphanet journal of rare diseases

authors： Wilke MVMB,Dornelles AD,Schuh AS,Vairo FP,Basgalupp SP,Siebert M,Nalin T,Piltcher OB,Schwartz IVD

更新日期：2019-05-10 00:00:00

abstract：OBJECTIVES/BACKGROUND:Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene). Although, a few unique clinical features differentiate each of these forms,...

journal_title：Orphanet journal of rare diseases

authors： Nanetti L,Cavalieri S,Pensato V,Erbetta A,Pareyson D,Panzeri M,Zorzi G,Antozzi C,Moroni I,Gellera C,Brusco A,Mariotti C

更新日期：2013-08-14 00:00:00

abstract：BACKGROUND:Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3...

journal_title：Orphanet journal of rare diseases

authors： Mercier S,Küry S,Salort-Campana E,Magot A,Agbim U,Besnard T,Bodak N,Bou-Hanna C,Bréhéret F,Brunelle P,Caillon F,Chabrol B,Cormier-Daire V,David A,Eymard B,Faivre L,Figarella-Branger D,Fleurence E,Ganapathi M,Gherard

更新日期：2015-10-15 00:00:00

abstract：BACKGROUND:Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare disease, characterized by the massive accumulation of triglyceride (TG) in multiple tissues, especially skeletal muscle, heart muscle and the coronary artery. TGCV is caused by mutation of adipose triglyceride lipase, which is an essential molecule ...

journal_title：Orphanet journal of rare diseases

authors： Hara Y,Kawasaki N,Hirano K,Hashimoto Y,Adachi J,Watanabe S,Tomonaga T

更新日期：2013-12-21 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：BACKGROUND:In spite of recent major advances in the understanding and treatment of inhibitor development in patients with haemophilia, multidisciplinary management of many of these patients remains suboptimal and highly heterogenous across Europe. METHODS:Following a series of multidisciplinary meetings and a review o...

journal_title：Orphanet journal of rare diseases

authors： Giangrande PLF,Hermans C,O'Mahony B,de Kleijn P,Bedford M,Batorova A,Blatný J,Jansone K,European Haemophilia Consortium (EHC) and the European Association for Haemophilia and Allied Disorders (EAHAD).

更新日期：2018-04-27 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