New Articles From Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D’Acunto, Hudson H. Freeze and Erik A. Eklund Orphanet Journal of Rare Diseases 2018, 13:4 | Published on: 10 January 2018 Full Text | PDF RESEARCH Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial Jenny Downs, Jenny Rodger, Chen Li, Xuesong Tan, Nan Hu, Kingsley Wong, Nicholas de Klerk and Helen Leonard Orphanet Journal of Rare Diseases 2018, 13:3 | Published on: 10 January 2018 Full Text | PDF

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