Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH Transbronchial lung biopsy for the diagnosis of lymphangioleiomyomatosis: the severity of cystic lung destruction assessed by the modified Goddard scoring system as a predictor for establishing the diagnosis Shouichi Okamoto, Kazuhiro Suzuki, Takuo Hayashi, Keiko Muraki, Tetsutaro Nagaoka, Koichi Nishino, Yasuhito Sekimoto, Shinichi Sasaki, Kazuhisa Takahashi and Kuniaki Seyama Orphanet Journal of Rare Diseases 2020, 15:125 | Published on: 26 May 2020 Full Text | PDF REVIEW Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal… Orphanet Journal of Rare Diseases 2020, 15:126 | Published on: 26 May 2020 Full Text | PDF POSITION STATEMENT TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases Lieven Annemans and Amr Makady Orphanet Journal of Rare Diseases 2020, 15:127 | Published on: 26 May 2020 Full Text | PDF

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