Pulmonary hypertension in lymphangioleiomyomatosis: prevalence, severity and the role of carbon monoxide diffusion capacity as a screening method.

abstract：:The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6...

journal_title：Orphanet journal of rare diseases

authors： Cereda A,Carey JC

更新日期：2012-10-23 00:00:00

abstract：BACKGROUND:FBLN5-related cutis laxa (CL) is a rare disorder that involves elastic fiber-enriched tissues and is characterized by lax skin and variable systemic involvement such as pulmonary emphysema, arterial involvement, inguinal hernias, hollow viscus diverticula and pyloric stenosis. This type of CL follows mostly ...

journal_title：Orphanet journal of rare diseases

authors： Gharesouran J,Hosseinzadeh H,Ghafouri-Fard S,Jabbari Moghadam Y,Ahmadian Heris J,Jafari-Rouhi AH,Taheri M,Rezazadeh M

更新日期：2021-01-28 00:00:00

abstract：BACKGROUND:Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient's quality of life (QOL). The aim of this study was t...

journal_title：Orphanet journal of rare diseases

authors： Hatano T,Ohno Y,Imai Y,Moritake J,Endo K,Tamari M,Egawa S

更新日期：2020-06-01 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 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: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：: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：: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:X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined treatment with the ACE-inhibitor enalapril and the β-blocker metoprolol in a German cohort of infant...

journal_title：Orphanet journal of rare diseases

authors： Dittrich S,Graf E,Trollmann R,Neudorf U,Schara U,Heilmann A,von der Hagen M,Stiller B,Kirschner J,Pozza RD,Müller-Felber W,Weiss K,von Au K,Khalil M,Motz R,Korenke C,Lange M,Wilichowski E,Pattathu J,Ebinger F,Wiec

更新日期：2019-05-10 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: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：BACKGROUND:There are an established and growing number of Mendelian genetic causes for chronic kidney disease (CKD) in adults, though estimates of prevalence have been speculative. The CKD Queensland (CKD.QLD) registry enables partial clarification of this through the study of adults with CKD receiving nephrology care ...

journal_title：Orphanet journal of rare diseases

authors： Mallett A,Patel C,Salisbury A,Wang Z,Healy H,Hoy W

更新日期：2014-06-30 00:00:00

abstract：BACKGROUND:Myotonic dystrophy type 1 (Steinert's disease or DM1), the most common form of autosomal dominant muscular dystrophy in adults, is a multisystem disorder, affecting skeletal muscle as well as eyes, heart, gastrointestinal tract, endocrine system, and central nervous system, finally responsible of increasing ...

journal_title：Orphanet journal of rare diseases

authors： Baldanzi S,Bevilacqua F,Lorio R,Volpi L,Simoncini C,Petrucci A,Cosottini M,Massimetti G,Tognoni G,Ricci G,Angelini C,Siciliano G

更新日期：2016-04-04 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：: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：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:Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, motor defi...

journal_title：Orphanet journal of rare diseases

authors： Cannet C,Pilotto A,Rocha JC,Schäfer H,Spraul M,Berg D,Nawroth P,Kasperk C,Gramer G,Haas D,Piel D,Kölker S,Hoffmann G,Freisinger P,Trefz F

更新日期：2020-02-27 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: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：: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: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：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：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:Inherited intellectual disability (ID) conditions are a group of genetically heterogeneous disorders that lead to variable degrees of cognition deficits. It has been shown that inherited ID can be caused by mutations in over 100 different genes and there is evidence for the presence of as yet unidentified ge...

journal_title：Orphanet journal of rare diseases

authors： Akawi NA,Al-Jasmi F,Al-Shamsi AM,Ali BR,Al-Gazali L

更新日期：2013-06-17 00:00:00

abstract：BACKGROUND:Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, industry hesitated to undertake relevant research and development (R&D). In response, the governme...

journal_title：Orphanet journal of rare diseases

authors： Choudhury MC,Saberwal G

更新日期：2019-11-04 00:00:00

abstract：BACKGROUND:Rapamycin has gained significant attention for its potential activity in reducing the size of TSC-associated tumors, thus providing alternative to surgery. This study aimed at determining the efficacy of rapamycin and rapalogs for reducing the size of TSC-associated solid tumors in patients with Tuberous Scl...

journal_title：Orphanet journal of rare diseases

authors： Sasongko TH,Ismail NF,Nik Abdul Malik NM,Zabidi-Hussin ZA

更新日期：2015-08-12 00:00:00

abstract：BACKGROUND:Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze possible differences in auxological parameters, carbohydrate and lipid metabolism between two groups of...

journal_title：Orphanet journal of rare diseases

authors： Magill L,Laemmer C,Woelfle J,Fimmers R,Gohlke B

更新日期：2020-10-12 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:Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents a...

journal_title：Orphanet journal of rare diseases

authors： Serrano M,de Diego V,Muchart J,Cuadras D,Felipe A,Macaya A,Velázquez R,Poo MP,Fons C,O'Callaghan MM,García-Cazorla A,Boix C,Robles B,Carratalá F,Girós M,Briones P,Gort L,Artuch R,Pérez-Cerdá C,Jaeken J,Pérez B,P

更新日期：2015-10-26 00:00:00