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

http://ojrd.biomedcentral.com/

Recent publications latest 20 shown

  • 2019-12 Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping
  • 2019-12 Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings
  • 2019-12 Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia
  • 2019-12 Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU
  • 2019-12 Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease
  • 2019-12 Achondroplasia: a comprehensive clinical review
  • 2019-12 Clinical and positron emission tomography responses to long-term high-dose interferon-α treatment among patients with Erdheim–Chester disease
  • 2019-12 Experiences in the treatment of refractory chylothorax associated with lymphoproliferative disorders
  • 2019-12 Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure
  • 2019-12 Patient involvement in medical research: what patients and physicians learn from each other
  • 2019-12 Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders
  • 2019-12 Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease
  • 2019-12 Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices
  • 2019-12 High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor
  • 2019-12 Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
  • 2019-12 Betaine anhydrous in homocystinuria: results from the RoCH registry
  • 2019-12 The Korean undiagnosed diseases program: lessons from a one-year pilot project
  • 2019-12 Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study
  • 2019-12 Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy
  • 2019-12 Assessing the criteria for definition of perimembranous ventricular septal defects in light of the search for consensus.
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