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

OJRD's 10th Anniversary

Please visit our special 10th Anniversary/ Rare Disease Day site, for new publications, blogs, a quiz, and "OJRD Classics", a look at the journal and its advocacy for the voices of rare diseases over the last decade.

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Research  

Disease burden of spinal muscular atrophy in Germany

Klug C, Schreiber-Katz O, Thiele S, Schorling E, Zowe J, Reilich P, Walter M, Nagels K

Orphanet Journal of Rare Diseases 2016, 11 :58 (4 May 2016)

Abstract | Full Text | PDF

Research  

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Megahed H, Nicouleau M, Barcia G, Medina-Cano D, Siquier-Pernet K, Bole-Feysot C, Parisot M, Masson C, Nitschké P, Rio M, Bahi-Buisson N, Desguerre I, Munnich A, Boddaert N, Colleaux L, Cantagrel V

Orphanet Journal of Rare Diseases 2016, 11 :57 (4 May 2016)

Abstract | Full Text | PDF

Research  

High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome

Beauloye V, Diene G, Kuppens R, Zech F, Winandy C, Molinas C, Faye S, Kieffer I, Beckers D, Nergårdh R, Hauffa B, Derycke C, Delhanty P, Hokken-Koelega A, Tauber M

Orphanet Journal of Rare Diseases 2016, 11 :56 (4 May 2016)

Abstract | Full Text | PDF

Research  

Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation

Ju J, Hirose S, Shi X, Ishii A, Hu L, Zou L

Orphanet Journal of Rare Diseases 2016, 11 :55 (4 May 2016)

Abstract | Full Text | PDF

Research  

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

Lenders M, Weidemann F, Kurschat C, Canaan-Kühl S, Duning T, Stypmann J, Schmitz B, Reiermann S, Krämer J, Blaschke D, Wanner C, Brand S, Brand E

Orphanet Journal of Rare Diseases 2016, 11 :54 (4 May 2016)

Abstract | Full Text | PDF