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 REVIEW Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro and Yann Nadjar Orphanet Journal of Rare Diseases 2018, 13:29 | Published on: 1 February 2018 Full Text | PDF REVIEW Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins and Joseph J. Orsini Orphanet Journal of Rare Diseases 2018, 13:30 | Published on: 1 February 2018 Full Text | PDF REVIEW Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDR Trevor Richter, Ghayath Janoudi, William Amegatse and Sandra Nester-Parr Orphanet Journal of Rare Diseases 2018, 13:15 | Published on: 1 February 2018 Full Text | PDF

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