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EL BIRUNI: CIENCIAS MÉDICAS NEWS ▲ DIRECTORIO DE DOCUMENTOS EDITADOS EN JUNIO de 2016 [*] ► Contenidos Copyright by Cera...
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EL BIRUNI: CIENCIAS MÉDICAS NEWS ▲ DIRECTORIO DE DOCUMENTOS EDITADOS EN JUNIO de 2016 [*] ► Contenidos Copyright by Cerasale Morteo, Víctor Norberto; 2008 a 2016. SALTA / ARGENTINA. 12 de Junio de 2016. ARCHIVO DEL BLOG ▼ 2016 (6356) ▼ junio (5...
Rare Diseases
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OrphaNews : the newsletter of the Rare Disease Community Editorial RD-ACTION: the new European Rare Disease Joint Action RD-ACTION, the new Joint Action consisting of the member states of the European Union for rare diseases, was launched on 17 September...

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Osteopetrosis | Orphanet Journal of Rare Diseases | Full Text

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall inci...
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome | Orphanet Journal of Rare Diseases

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enz...

Home page | Orphanet Journal of Rare Diseases

Encompassing all aspects of rare diseases and orphan drugs, Orphanet Journal of Rare Diseases features high quality reviews and original articles in ...