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 Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada and Shinji Saitoh Orphanet Journal of Rare Diseases 2019, 14:277 | Published on: 2 December 2019 Full Text | PDF REVIEW Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review Małgorzata Kałużna, Isabella Trzeciak, Katarzyna Ziemnicka, Maciej Machaczka and Marek Ruchała Orphanet Journal of Rare Diseases 2019, 14:275 | Published on: 2 December 2019 Full Text | PDF RESEARCH Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region Inmaculada Pagola-Lorz, Esther Vicente, Berta Ibáñez, Laura Torné, Itsaso Elizalde-Beiras, Virginia Garcia-Solaesa, Fermín García, Josu Delfrade and Ivonne Jericó Orphanet Journal of Rare Diseases 2019, 14:276 | Published on: 2 December 2019 Full Text | PDF

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