Orphanet Journal of Rare Diseases

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

RESEARCH

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study

Meng Yuan, Eleni-Rosalina Andrinopoulou, Michelle E. Kruijshaar, Aglina Lika, Laurike Harlaar, Ans T. van der Ploeg, Dimitris Rizopoulos and Nadine A. M. E. van der Beek

Orphanet Journal of Rare Diseases 2020, 15:232 | Published on: 3 September 2020

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POSITION STATEMENT

Registries for orphan drugs: generating evidence or marketing tools?

Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Vincent van der Wel, Mirjam Langeveld, Hanka Dekker, Robin Lachmann and Saco J. de Visser

Orphanet Journal of Rare Diseases 2020, 15:235 | Published on: 3 September 2020

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RESEARCH

Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments

Milton Pratt, Julie Uchitel, Nancy McGreal, Kelly Gordon, Lyndsey Prange, Melissa McLean, Richard J. Noel, Blaire Rikard, Mary K. Rogers Boruta and Mohamad A. Mikati

Orphanet Journal of Rare Diseases 2020, 15:231 | Published on: 3 September 2020

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RESEARCH

FDA orphan products clinical trial grants: assessment of outcomes and impact on rare disease product development

Kathleen L. Miller, Christine Mueller, Gumei Liu, Katherine I. Miller Needleman and Janet Maynard

Orphanet Journal of Rare Diseases 2020, 15:234 | Published on: 3 September 2020

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RESEARCH

Variability and change over time of weight and BMI among adolescents and adults with Prader-Willi syndrome: a 6-month text-based observational study

Caroline J. Vrana-Diaz, Priya Balasubramanian, Nathalie Kayadjanian, Jessica Bohonowych and Theresa V. Strong

Orphanet Journal of Rare Diseases 2020, 15:233 | Published on: 3 September 2020

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