lunes, 27 de abril de 2020

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

New Articles For BioMed Central:

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

RESEARCH

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Lena H. P. Vroegindeweij, Agnita J. W. Boon, J. H. Paul Wilson and Janneke G. Langendonk
Orphanet Journal of Rare Diseases 2020, 15:105 | Published on: 25 April 2020
Full Text | PDF

RESEARCH

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradin, Lianne Gompertz…
Orphanet Journal of Rare Diseases 2020, 15:103 | Published on: 25 April 2020
Full Text | PDF

RESEARCH

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg and Mercedes Pineda
Orphanet Journal of Rare Diseases 2020, 15:104 | Published on: 25 April 2020
Full Text | PDF

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