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Orphanet Journal of Rare Diseases

Công bố khoa học tiêu biểu của tạp chí. * Dữ liệu chỉ mang tính chất tham khảo

Sắp xếp

Fingolimod in children with Rett syndrome: the FINGORETT study

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Orphanet Journal of Rare Diseases· Tập 16 ·Trang 1-9·2021

Yvonne Naegelin, Jens Kuhle, Sabine Schädelin, Alexandre N. Datta, Stefano Magon, Michael Amann, Christian Barro, Gian Paolo Ramelli, Kate Heesom, Yves-Alain Barde, Peter Weber, Ludwig Kappos

Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?

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Orphanet Journal of Rare Diseases· Tập 16 ·Trang 1-8·2021

Tobias Schmidt, Constantin Schmidt, Michael Amling, Jan Kramer, Florian Barvencik

Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients

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Orphanet Journal of Rare Diseases· Tập 16 ·Trang 1-12·2021

J. Víšek, M. Bláha, V. Bláha, M. Lášticová, M. Lánska, C. Andrýs, J. Duintjer Tebbens, Ivone Cristina Igreja e Sá, K. Tripská, M. Vicen, I. Najmanová, P. Nachtigal

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

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Orphanet Journal of Rare Diseases· Tập 10 Số 1 ·2015

Aglaia Vignoli, Francesca La Briola, Angela Peron, Katherine Turner, Chiara Vannicola, Monica Saccani, Elisabetta Magnaghi, Giulia Federica Scornavacca, Maria Paola Canevini

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Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency

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Orphanet Journal of Rare Diseases· Tập 10 ·Trang 1-13·2015

Dorottya Csuka, Nóra Veszeli, Éva Imreh, Zsuzsanna Zotter, Judit Skopál, Zoltán Prohászka, Lilian Varga, Henriette Farkas

Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease

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Orphanet Journal of Rare Diseases· Tập 14 ·Trang 1-2·2019

Wladimir Mauhin, Olivier Lidove, Olivier Benveniste

XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)

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Orphanet Journal of Rare Diseases· Tập 18 ·Trang 1-16·2023

Lothar Seefried, Ali Alzahrani, Pedro Arango Sancho, Justine Bacchetta, Rachel Crowley, Francesco Emma, Jonathan Gibbins, Anna Grandone, Muhammad Kassim Javaid, Gabriel Mindler, Adalbert Raimann, Anya Rothenbuhler, Ian Tucker, Leonid Zeitlin, Agnès Linglart

The nuclear lamina during human spermiogenesis

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Orphanet Journal of Rare Diseases· Tập 10 ·Trang 1-1·2015

Michael Mitchell

Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data

Orphanet Journal of Rare Diseases· Tập 18 Số 1

Jef Van den Eynde, Bhargava Chinni, Hilary J. Vernon, William Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders

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Orphanet Journal of Rare Diseases· Tập 6 ·Trang 1-6·2011

Carla EM Hollak, Johannes MFG Aerts, Ségolène Aymé, Jeremy Manuel

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