Current and Emerging Therapeutic Options for the Management of Rare Skeletal Diseases
Author:
Funder
Deutsche Forschungsgemeinschaft
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s40272-019-00330-0.pdf
Reference100 articles.
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2. Heon-Klin V. European Reference networks for rare diseases: what is the conceptual framework? Orphanet J Rare Dis. 2017;12(1):137.
3. Nampoothiri S, et al. Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country. Am J Med Genet A. 2014;164A(9):2317–23.
4. Ben Amor IM, Glorieux FH, Rauch F. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. J Osteoporos. 2011;2011:540178.
5. Caparros-Martin JA, et al. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. Am J Med Genet A. 2013;161A(6):1354–69.
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