Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

The following new articles have just been published in Orphanet Journal of Rare Diseases

Research  

Survey of healthcare experiences of Australian adults living with rare diseases

Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, Dawkins H

Orphanet Journal of Rare Diseases 2016, 11 :30 (24 March 2016)

Abstract | Full Text | PDF

Research  

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients

Smid B, Ferraz M, Verhoek M, Mirzaian M, Wisse P, Overkleeft H, Hollak C, Aerts J

Orphanet Journal of Rare Diseases 2016, 11 :28 (24 March 2016)

Abstract | Full Text | PDF

Research  

Ten years of specialized adult care for phenylketonuria – a single-centre experience

Mütze U, Thiele A, Baerwald C, Ceglarek U, Kiess W, Beblo S

Orphanet Journal of Rare Diseases 2016, 11 :27 (24 March 2016)

Abstract | Full Text | PDF

Review  

Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes

Lavezzo M, Sakata V, Morita C, Rodriguez E, Abdallah S, da Silva F, Hirata C, Yamamoto J

Orphanet Journal of Rare Diseases 2016, 11 :29 (24 March 2016)

Abstract | Full Text | PDF