Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases REVIEW Achondroplasia: a comprehensive clinical review Richard M. Pauli Orphanet Journal of Rare Diseases 2019, 14:1 | Published on: 3 January 2019 Full Text | PDF RESEARCH Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU Sharon Evans, Suzanne Ford, Sarah Adam, Sandra Adams, Jane Ash, Catherine Ashmore, Gillian Caine, Rachel Carruthers, Sarah Cawtherley, Satnam Chahal, Anne Clark, Barbara Cochrane, Anne Daly, Karen Dines, Marjorie Dixon, Carolyn Dunlop… Orphanet Journal of Rare Diseases 2019, 14:2 | Published on: 3 January 2019 Full Text | PDF

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1. Content Type:Research

     |  3 January 2019

   Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU

   Authors:Sharon Evans, Suzanne Ford, Sarah Adam, Sandra Adams, Jane Ash, Catherine Ashmore, Gillian Caine, Rachel Carruthers, Sarah Cawtherley, Satnam Chahal, Anne Clark, Barbara Cochrane, Anne Daly, Karen Dines, Marjorie Dixon, Carolyn Dunlop…
2. Content Type:Review

     |  3 January 2019

   Achondroplasia: a comprehensive clinical review

   Authors:Richard M. Pauli
3. Content Type:Research

     |  29 December 2018

   Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? –a single-center cross-sectional study

   Authors:Heidi Arponen, Adel Bachour, Leif Bäck, Helena Valta, Antti Mäkitie, Janna Waltimo-Sirén and Outi Mäkitie
4. Content Type:Research

     |  22 December 2018

   Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism

   Authors:Alena Welters, Thomas Meissner, Jürgen Grulich-Henn, Elke Fröhlich-Reiterer, Katharina Warncke, Klaus Mohnike, Oliver Blankenstein, Ulrike Menzel, Nicolin Datz, Esther Bollow and Reinhard W. Holl
5. Content Type:Research

     |  22 December 2018

   X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

   Authors:Xiao Zhang, Yanqin Zhang, Yanmei Zhang, Hongbo Gu, Zhe Chen, Lei Ren, Xingxing Lu, Li Chen, Fang Wang, Yuhe Liu and Jie Ding

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