Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

RESEARCH

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement

Alessandro Rossi, Chiara Simeoli, Mariacarolina Salerno, Rosario Ferrigno, Roberto Della Casa, Annamaria Colao, Pietro Strisciuglio, Giancarlo Parenti, Rosario Pivonello and Daniela Melis

Orphanet Journal of Rare Diseases 2020, 15:99 | Published on: 19 April 2020

Full Text | PDF

RESEARCH

Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene

Jing Yang, Fei Han, Qianlong Chen, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Jian Cao and Xiaoqing Li

Orphanet Journal of Rare Diseases 2020, 15:98 | Published on: 19 April 2020

Full Text | PDF

REVIEW

Detection of alpha-1 antitrypsin deficiency: the past, present and future

Mark Brantly, Michael Campos, Angela M. Davis, Jeanine D’Armiento, Kenneth Goodman, Kathi Hanna, Miriam O’Day, John Queenan, Robert Sandhaus, James Stoller, Charlie Strange, Jeffrey Teckman and Adam Wanner

Orphanet Journal of Rare Diseases 2020, 15:96 | Published on: 19 April 2020

Full Text | PDF

REVIEW

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin and Maurizio Scarpa

Orphanet Journal of Rare Diseases 2020, 15:97 | Published on: 19 April 2020

Full Text | PDF

Follow BMC on:

For further information or enquiries please use our contact page details.

BMC respects your privacy and does not disclose, sell or rent your personal information to any non-affliated third parties with your consent. Privacy policy.

BioMed Central Ltd
The Campus, 4 Crinan Street,
London, N1 9XW,
United Kingdom