jueves, 24 de septiembre de 2020

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

New Articles For BioMed Central:

Orphanet Journal of Rare Diseases

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

POSITION STATEMENT

Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?

Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio and Generoso Andria
Orphanet Journal of Rare Diseases 2020, 15:262 | Published on: 23 September 2020
Full Text | PDF

RESEARCH

Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency

Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet and K. Michael Gibson
Orphanet Journal of Rare Diseases 2020, 15:261 | Published on: 23 September 2020
Full Text | PDF

RESEARCH

Medical costs of Alpha-1 antitrypsin deficiency-associated COPD in the United States

Jan Sieluk, Julia F. Slejko, Henry Silverman, Eleanor Perfetto and C. Daniel Mullins
Orphanet Journal of Rare Diseases 2020, 15:260 | Published on: 23 September 2020
Full Text | PDF

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