Orphanet Journal of Rare Diseases

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

RESEARCH

Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat

A. Imanishi, T. Kawazoe, Y. Hamada, T. Kumagai, K. Tsutsui, N. Sakai, K. Eto, A. Noguchi, T. Shimizu, T. Takahashi, G. Han, K. Mishima, T. Kanbayashi and H. Kondo

Orphanet Journal of Rare Diseases 2020, 15:269 | Published on: 29 September 2020

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RESEARCH

Phenotypic diversity in an international Cure VCP Disease registry

Chiseko Ikenaga, Andrew R. Findlay, Michelle Seiffert, Allison Peck, Nathan Peck, Nicholas E. Johnson, Jeffrey M. Statland and Conrad C. Weihl

Orphanet Journal of Rare Diseases 2020, 15:267 | Published on: 29 September 2020

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RESEARCH

Clinical significance of serum anti-granulocyte–macrophage colony-stimulating factor autoantibodies in patients with sarcoidosis and hypersensitivity pneumonitis

Kanako Katayama, Masaki Hirose, Toru Arai, Kazuyoshi Hatsuda, Kazunobu Tachibana, Reiko Sugawara, Chikatoshi Sugimoto, Takahiko Kasai, Masanori Akira and Yoshikazu Inoue

Orphanet Journal of Rare Diseases 2020, 15:272 | Published on: 29 September 2020

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REVIEW

The Amyloidosis Forum: a public private partnership to advance drug development in AL amyloidosis

Isabelle Lousada

Orphanet Journal of Rare Diseases 2020, 15:268 | Published on: 29 September 2020

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RESEARCH

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska and Nicole M. Muschol

Orphanet Journal of Rare Diseases 2020, 15:271 | Published on: 29 September 2020

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RESEARCH

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

Lina Moisan, David Iannuzzi, Bruno Maranda, Philippe M. Campeau and John J. Mitchell

Orphanet Journal of Rare Diseases 2020, 15:270 | Published on: 29 September 2020

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