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Orphanet Journal of Rare Diseases|April 6, 2018
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature reviewJames F H Pittaway, Christopher Harrison, Yumie Rhee, et al.
Orphanet Journal of Rare Diseases|April 11, 2018
Fabry disease in the Spanish population: observational study with detection of 77 patientsIrene Vieitez, Olga Souto-Rodriguez, Lorena Fernandez-Mosquera, et al.
Orphanet Journal of Rare Diseases|April 11, 2018
Epidemiology of Sanfilippo syndrome: results of a systematic literature reviewTamás Zelei, Kata Csetneki, Zoltán Vokó, et al.
Orphanet Journal of Rare Diseases|April 8, 2018
Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCIDHeide Stirnadel-Farrant, Mahesh Kudari, Nadia Garman, et al.
Orphanet Journal of Rare Diseases|August 27, 2016
Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issuesChristian J Hendriksz, Kenneth I Berger, Christina Lampe, et al.
Orphanet Journal of Rare Diseases|May 27, 2017
PIGO deficiency: palmoplantar keratoderma and novel mutationsMarie-Anne Morren, Jaak Jaeken, Gepke Visser, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplexJennifer Brun, Christine Chiaverini, Caroline Devos, et al.
Orphanet Journal of Rare Diseases|July 7, 2017
ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-TMichele Menotta, Sara Biagiotti, Chiara Spapperi, et al.
Orphanet Journal of Rare Diseases|February 2, 2010
Rothmund-Thomson syndromeLidia Larizza, Gaia Roversi, Ludovica Volpi
Orphanet Journal of Rare Diseases|July 22, 2018
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparisonSarah F Barclay, Casey M Rand, Lisa Nguyen, et al.
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