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Orphanet Journal of Rare Diseases|January 20, 2019
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedureGé-Ann Kuiper, Eveline J Langereis, Sandra Breyer, et al.
Orphanet Journal of Rare Diseases|January 23, 2019
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophyAstrid Pechmann, Kirsten König, Günther Bernert, et al.
Orphanet Journal of Rare Diseases|January 23, 2019
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?María-Jesús Sobrido, Peter Bauer, Tom de Koning, et al.
Orphanet Journal of Rare Diseases|November 6, 2019
Causes of death in Prader-Willi syndrome: lessons from 11 years' experience of a national reference centerDibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, et al.
Orphanet Journal of Rare Diseases|January 11, 2019
Experiences in the treatment of refractory chylothorax associated with lymphoproliferative disordersJana Pospiskova, Lukas Smolej, David Belada, et al.
Orphanet Journal of Rare Diseases|January 13, 2019
Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary centerAurélien Guffroy, Yannick Dieudonné, Beatrice Uring-Lambert, et al.
Orphanet Journal of Rare Diseases|February 13, 2019
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathyMoritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, et al.
Orphanet Journal of Rare Diseases|November 16, 2019
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic reviewHannah Fraser, Julia Geppert, Rebecca Johnson, et al.
Orphanet Journal of Rare Diseases|November 16, 2019
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1Antonia Assunto, Ursula Ferrara, Alessandro De Luca, et al.
Orphanet Journal of Rare Diseases|July 17, 2021
The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriersMohammad Sorowar Hossain, Md Mahbub Hasan, Mary Petrou, et al.
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