Rare diseases || Updates on Specific Diseases

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Last Posted: Dec 11, 2017

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• Breakthrough answers on rare disorder that delays children’s first word  
  A Dou, Sydney Morning Herald, Dec 12, 2017
• Medical Science Should Learn To Tap The Urgency Of Families Desperate To Save Loved Ones  
  I Kohane, WBUR, Dec 11, 2017
• The accuracy of hospital ICD-9-CM codes for determining Sickle Cell Disease genotype.  
  Snyder Angela B et al. Journal of rare diseases research & treatment 2017 2(4) 39-45
• [A study of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital].  
  Lafuente-Hidalgo M et al. Revista de neurologia 2017 Dec 65(11) 496-502
• Living with a rare disorder: a systematic review of the qualitative literature.  
  von der Lippe Charlotte et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 758-773
• Next-generation sequencing in clinical practice: from the patients' preferences to the informed consent process.  
  Pélissier A et al. Public health 2016 138157-9
• The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.  
  Lochmüller Hanns et al. European journal of human genetics : EJHG 2017 Nov
• Clinical Trials Bring Hope to Kids with Spinal Muscular Atrophy  
  F Collins, NIH Director's blog, Nov 21, 2017
• Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.  
  Schofield Deborah et al. NPJ genomic medicine 2017 2
• Marking 15 years of the Genetic and Rare Diseases Information Center.  
  Lewis Janine et al. Translational science of rare diseases 2017 May 2(1-2) 77-88
• The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact  
  H Lochmuller et al, Eur J Human Genetics, Nov 21, 2017
• A Life Saved By Genetic Sequencing  
  K Raven, Yale Medicine, Nov 20, 2017
• A Wish Realized: Genetic testing solves a family medical mystery  
  Mayo Clinic, Nov 16, 2017
• Extreme parenting: How the mothers and fathers of children with ultra rare disorders spearhead their own support and research strategies.  
  K Edwards, Genome Magazine, Nov 16, 2017
• Monogenic Diseases of DNA Repair.  
  Keijzers Guido et al. The New England journal of medicine 2017 11 (19) 1868-1876
• Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.  
  Forestier-Zhang Lydia et al. Orphanet journal of rare diseases 2016 11(1) 160

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