Orphanet Journal of Rare Diseases View Homepage


Ontology type: schema:Periodical      Open Access: True


Journal Info

START YEAR

2006

PUBLISHER

BioMed Central

LANGUAGE

en

HOMEPAGE

https://ojrd.biomedcentral.com/

Recent publications latest 20 shown

  • 2021-12-24 Childhood rare diseases and the UN convention on the rights of the child
  • 2021-12-23 Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US
  • 2021-12-20 A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm
  • 2021-12-20 Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
  • 2021-12-20 Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre
  • 2021-12-20 Clinical, humanistic, and economic burden of severe haemophilia B in adults receiving factor IX prophylaxis: findings from the CHESS II real-world burden of illness study in Europe
  • 2021-12-20 Effects of socio-economic factors on research over systemic sclerosis: an analysis based on long time series of bibliometric data
  • 2021-12-18 National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses
  • 2021-12-18 Current status of newborn screening for Pompe disease in Japan
  • 2021-12-14 Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium
  • 2021-12-14 On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum
  • 2021-12-14 Genetic testing and diagnosis of inherited retinal diseases
  • 2021-12-14 Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasia
  • 2021-12-14 Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children’s Hospital in China
  • 2021-12-14 Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
  • 2021-12-14 Leukocyte telomere length and amyotrophic lateral sclerosis: a Mendelian randomization study
  • 2021-12-14 Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections
  • 2021-12-07 Correction to: Physical and mental growth and development in children with congenital hypothyroidism: a case–control study
  • 2021-12-07 Correction to: Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8
  • 2021-12-04 Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan
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