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 Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, Monika Pathak, Antonia Miñano, Mercedes Serrano, Delphine Borgel, Vanessa Roldán, Vicente Vicente, Jonas Emsley and Javier Corral Orphanet Journal of Rare Diseases 2020, 15:280 | Published on: 9 October 2020 Full Text | PDF REVIEW Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature Aileen Kenneson and Rani H. Singh Orphanet Journal of Rare Diseases 2020, 15:279 | Published on: 9 October 2020 Full Text | PDF

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