martes, 5 de noviembre de 2019

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

RESEARCH

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study

Nasreen Khan, Raquel Cabo, Wen-Hann Tan, Regina Tayag and Lynne M. Bird
Orphanet Journal of Rare Diseases 2019, 14:239 | Published on: 4 November 2019
Full Text | PDF

REVIEW

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

Shanice Beerepoot, Stefan Nierkens, Jaap Jan Boelens, Caroline Lindemans, Marianna Bugiani and Nicole I. Wolf
Orphanet Journal of Rare Diseases 2019, 14:240 | Published on: 4 November 2019
Full Text | PDF

RESEARCH

Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center

Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, Catherine Molinas, Gwénaëlle Diene, Marion Valette, Graziella Pinto, Muriel Coupaye, Christine Poitou-Bernert, Denise Thuilleaux, Catherine Arnaud and Maithé Tauber
Orphanet Journal of Rare Diseases 2019, 14:238 | Published on: 4 November 2019
Full Text | PDF

RESEARCH

The work, goals, challenges, achievements, and recommendations of orphan medicinal product organizations in India: an interview-based study

Mohua Chakraborty Choudhury and Gayatri Saberwal
Orphanet Journal of Rare Diseases 2019, 14:241 | Published on: 4 November 2019
Full Text | PDF

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