Darshana, Thamal Rees, David Premawardhena, Anuja
Published in
Orphanet Journal of Rare Diseases
BackgroundHydroxyurea and blood transfusion therapies remain the main therapeutic strategies for Sickle cell disease. Preliminary data suggest substantial variation and inconsistencies in practice of these two therapeutic modalities in South Asia. In this systematic review we searched Medline, Cochrane library and Scopus for articles on usage of hy...
Lin, Yiming Zhang, Weifeng Huang, Chenggang Lin, Chunmei Lin, Weihua Peng, Weilin Fu, Qingliu Chen, Dongmei
Published in
Orphanet Journal of Rare Diseases
BackgroundNewborn screening for primary carnitine deficiency (NBS) is commonly implemented worldwide; however, it has poor sensitivity. This study aimed to evaluate the feasibility of improving screening by including a second-tier genetic assay.ResultsAn Agena iPLEX assay was developed to identify 17 common SLC22A5 mutations in Chinese populations ...
Atalaia, Antonio Thompson, Rachel Corvo, Alberto Carmody, Leigh Piscia, Davide Matalonga, Leslie Macaya, Alfons Lochmuller, Angela Fontaine, Bertrand Zurek, Birte
...
Published in
Orphanet Journal of Rare Diseases
An amendment to this paper has been published and can be accessed via the original article.
Kılavuz, Sebile Basaran, Sibel Kor, Deniz Bulut, Fatma Derya Erdem, Sevcan Ballı, Hüseyin Tuğsan Dağkıran, Muhammed Bisgin, Atil Mungan, Halise Neslihan Önenli
Published in
Orphanet Journal of Rare Diseases
BackgroundThis case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme replacement therapy (ERT). Clinical data collected included physical appearance, anthropometric data, neurological...
Walter, Anna-Lena Baty, Florent Rassouli, Frank Bilz, Stefan Brutsche, Martin Hugo
Published in
Orphanet Journal of Rare Diseases
BackgroundDiagnostic precision and the identification of rare diseases is a daily challenge, which needs specialized expertise. We hypothesized, that there is a correlation between the distance of residence to the next tertiary medical facility with highly specialized care and the diagnostic precision, especially for rare diseases.ResultsUsing a na...
Talarico, Rosaria Cannizzo, Sara Lorenzoni, Valentina Marinello, Diana Palla, Ilaria Pirri, Salvatore Ticciati, Simone Trieste, Leopoldo Triulzi, Isotta Terol, Enrique
...
Published in
Orphanet Journal of Rare Diseases
An amendment to this paper has been published and can be accessed via the original article.
Black, Graeme C. Sergouniotis, Panagiotis Sodi, Andrea Leroy, Bart P. Van Cauwenbergh, Caroline Liskova, Petra Grønskov, Karen Klett, Artur Kohl, Susanne Taurina, Gita
...
Published in
Orphanet Journal of Rare Diseases
BackgroundRare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant numbe...
Nijhuis, Wouter Franken, Anton Ayers, Kara Damas, Chantal Folkestad, Lars Forlino, Antonella Fraschini, Paolo Hill, Claire Janus, Guus Kruse, Richard
...
Published in
Orphanet Journal of Rare Diseases
BackgroundOsteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The effectiveness of particular interventions and treatment protocols of interdisciplinary teams is not clear due to ...
Jason, Shourick Maxime, Wack Anne-Sophie, Jannot
Published in
Orphanet Journal of Rare Diseases
IntroductionEstimating the prevalence of diseases is crucial for the organization of healthcare. The amount of literature on a rare pathology could help differentiate between rare and very rare diseases. The objective of this work was to evaluate to what extent the number of publications can be used to predict the prevalence of a given pathology.Me...
Witters, Peter Andersson, Hans Jaeken, Jaak Tseng, Laura van Karnebeek, Clara D. M. Lefeber, Dirk J. Cassiman, David Morava, Eva
Published in
Orphanet Journal of Rare Diseases
PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients. Overall, there was no significant improvement but some milder patients did show positive clinical changes; ...
