Last Posted: Oct 18, 2018
- Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.
Bessey Alice et al. Orphanet journal of rare diseases 2018 Oct 13(1) 179 - Rare Disease 2019 Information Packet[PDF 1.00 MB]
NIH, October 2018 - The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Karaceper Maria D et al. Orphanet journal of rare diseases 2016 Feb 1112 - A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria.
Spiga Ottavia et al. Computers in biology and medicine 2018 Oct 1031-7 - Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes.
Vos Janet R et al. Familial cancer 2018 Oct - Milestone reached in major developmental disorders project
Sanger Institute, October 2018 - Rare Disease 2019 Information Packet
NIH, October 2018 - Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
K Splinter et al, NEJM, October 10, 2018 - Finding Answers for Patients With Rarest of Rare Diseases
Associated Press, New York Times, October 11, 2018 - Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
Vatier Camille et al. Current medical research and opinion 2018 Oct 1-22
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