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 Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children Hui Tang, Jing Guo, Siyuan Linpeng and Lingqian Wu Orphanet Journal of Rare Diseases 2019, 14:45 | Published on: 15 February 2019 Full Text | PDF RESEARCH Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU A. Daly, S. Evans, S. Chahal, S. Santra, A. Pinto, R. Jackson, C. Gingell, J. Rocha, F. J. Van Spronsen and A. MacDonald Orphanet Journal of Rare Diseases 2019, 14:44 | Published on: 15 February 2019 Full Text | PDF

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