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- 1From: Orphanet Journal of Rare Diseases. (Vol. 9) Peer-ReviewedBackground Subcutaneous panniculitis-like T cell lymphomas represent a rare and difficult to diagnose entity of cutaneous T cell lymphomas. SPTL affects predominantly young adults and presents with multifocal...
- 2From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedAuthor(s): David Uguen1 , Thomas Lönngren2 , Yann Le Cam3 , Sarah Garner4 , Emmanuelle Voisin1 , Carlo Incerti5 , Marc Dunoyer6 and Moncef Slaoui6 Rare diseases represent a key challenge to healthcare systems. With...
- 3From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue Suppl 1) Peer-ReviewedAuthor(s): Damian Smedley1 , Sebastian Kohler2,3 , William Bone4 , Anika Oellrich1 , Jules Jacobsen1 , 1 , Kai Wang5 , Chris Mungall6 , Nicole Washington6 , Sebastian Bauer2,3 , Dominic Seelow7 , Peter Krawitz2,3,8 ,...
- 4From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue Suppl 1) Peer-ReviewedAuthor(s): Monica Mazzucato1 , François Houyez2 and Paola Facchin1 In the last years, the Internet has attracted a considerable attention as a means to provide health-related information. Rare diseases patients have...
- 5From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedAuthor(s): Cristina Dias1,2,6 , Rosemarie Rupps1,2 , Benjamin Millar1 , Kunho Choi2 , Marco Marra1,3 , Michelle Demos4 , Lisa E Kratz5 and Cornelius F Boerkoel1,2 Findings Background Desmosterolosis is an...
- 6From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedAuthor(s): Alison Anderson1 , Kingsley Wong1 , Peter Jacoby1 , Jenny Downs1,2 and Helen Leonard1 Background The neurological disorder Rett syndrome (OMIM 312750) was first described in the English literature in...
- 7From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedAuthor(s): Diane E Spicer1 , Hao H Hsu2 , Jennifer Co-Vu1 , Robert H Anderson3 and F Jay Fricker1 Accurate estimates of the prevalence of holes between the ventricles are difficult to achieve. When patients with...
- 8From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedBackground The diagnostic evaluation of inherited platelet disorders (IPDs) is complicated and time-consuming, resulting in a relevant number of undiagnosed and incorrectly classified patients. In order to evaluate...
- 9From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedBackground Primary ciliary dyskinesia (PCD) is a rare disorder with variable disease progression. To date, mutations in more than 20 different genes have been found. At present, PCD subtypes are described according...
- 10From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedWarburg 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...
- 11From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedBackground We studied the differences in immunoreactive trypsin (IRT) in neonatal screening for cystic fibrosis (CF) associated individually with the age of the newborn, ethnicity and environmental temperature. In...
- 12From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedBackground The European Gaucher Alliance (EGA) was established in 1994 and constituted in 2008 as an umbrella group supporting patient organisations for Gaucher disease. Every two years, the EGA conducts a...
- 13From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedBackground One in 4500 children is born with ambiguous genitalia, milder phenotypes occur in one in 300 newborns. Conventional time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20-40%...
- 14From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedBackground Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an estimated prevalence of about 1/3000, independent of ethnicity, race, or gender. Attention Deficit Hyperactivity like Disorder...
- 15From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue Suppl 1) Peer-ReviewedAuthor(s): Tino Münster1 Anesthesia is becoming safer over the past decades. This process was driven by the development of new anesthetics and the establishment of modern safety concepts. On the other hand...
- 16From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedAuthor(s): Olivia Schreiber-Katz1 , Constanze Klug2 , Simone Thiele1 , Elisabeth Schorling2 , Janet Zowe2 , Peter Reilich1 , Klaus H Nagels2 and Maggie C Walter1 Background Duchenne muscular dystrophy (DMD) is a...
- 17From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedAuthor(s): Konstantin Dimitriadis1,7 , Miriam Leonhardt1,7 , Patrick Yu-Wai-Man2,3 , Matthew Anthony Kirkman2 , Alex Korsten4 , Irenaeus F De Coo4 , Patrick Francis Chinnery2,3 and Thomas Klopstock1,5,6,7 Background...
- 18From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedAuthor(s): Laura Huilaja1 , Kaarin Mäkikallio2 and Kaisa Tasanen1 Gestational pemphigoid (pemphigoid gestationis, PG) is a rare autoimmune skin disorder that occurs during pregnancy. PG belongs to the pemphigoid...
- 19From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue 1) Peer-ReviewedAuthor(s): Ghada Abdel-Salam1 , Michaela Thoenes2 , Hanan H Afifi1 , Friederike Körber3 , Daniel Swan4 and Hanno Jörn Bolz2,5 Background WWOX has been extensively studied for its role in cancer because it...
- 20From: Orphanet Journal of Rare Diseases. (Vol. 9, Issue Suppl 1) Peer-ReviewedAuthor(s): Gabor Pogany1 The Hungarian Williams Syndrome Association successfully organised the "Wing-Test" project supported by the Norwegian Fund and assisted by FRAMBU, the Resource Centre for Rare Disorders of...