A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registry

Challenges of transition to adult health services for patients with rare diseases

(2013) Yvonne A Zurynski et al.   MEDICAL JOURNAL OF AUSTRALIA

Provision and financing of assistive technology devices in Germany: A bureaucratic odyssey? The case of amyotrophic lateral sclerosis and Duchenne muscular dystrophy

(2012) Cornelia Henschke   HEALTH POLICY

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

Rare cancers are not so rare: The rare cancer burden in Europe

(2011) Gemma Gatta et al.   EUROPEAN JOURNAL OF CANCER

Rare neurological diseases: a united approach is needed

(2011) The Lancet Neurology   LANCET NEUROLOGY

Pricing and reimbursement of orphan drugs: the need for more transparency

(2011) Steven Simoens   Orphanet Journal of Rare Diseases

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders

(2011) Carla EM Hollak et al.   Orphanet Journal of Rare Diseases

Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

(2010) Yaffa R. Rubinstein et al.   Contemporary Clinical Trials

Transition to adult health care for adolescents with spina bifida: Research issues

(2010) Susan M. Sawyer et al.   Developmental Disabilities Research Reviews

The how (and why) of disease registers

(2010) Anil Mehta   EARLY HUMAN DEVELOPMENT

Rare diseases and legislation in China

(2010) Jing-Bo Wang et al.   LANCET

20-year survival of children born with congenital anomalies: a population-based study

(2010) Peter WG Tennant et al.   LANCET

The case for a global rare-diseases registry

(2010) Christopher B Forrest et al.   LANCET

Cystic Fibrosis and Transition to Adult Medical Care

(2010) L. K. Tuchman et al.   PEDIATRICS

Update on the management of Duchenne muscular dystrophy

(2008) A Y Manzur et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Hospitalization of children with sickle cell disease in a region with increasing immigration rates

(2008) R. Colombatti et al.   HAEMATOLOGICA