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Orphanet Journal of Rare Diseases|June 5, 2020
The modified Atkins diet in children with Prader-Willi syndromeGrace Felix, Eric Kossoff, Bobbie Barron, et al.
Orphanet Journal of Rare Diseases|June 5, 2020
To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseasesSally Lanar, Catherine Acquadro, James Seaton, et al.
Orphanet Journal of Rare Diseases|June 10, 2020
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)Thomas Eggermann, Miriam Elbracht, Ingo Kurth, et al.
Orphanet Journal of Rare Diseases|May 18, 2021
Clinical patterns and the evolution of relapsing polychondritis based on organ involvement: a Chinese retrospective cohort studyLei Zhang, Shuang Yun, Tiange Wu, et al.
Orphanet Journal of Rare Diseases|May 18, 2021
C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in ChinaYiming Lin, Zhantao Yang, Chiju Yang, et al.
Orphanet Journal of Rare Diseases|May 18, 2021
Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapyAna B Garcia-Delgado, Lourdes Valdes-Sanchez, Maria Jose Morillo-Sanchez, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Transbronchial lung biopsy for the diagnosis of lymphangioleiomyomatosis: the severity of cystic lung destruction assessed by the modified Goddard scoring system as a predictor for establishing the diagnosisShouichi Okamoto, Kazuhiro Suzuki, Takuo Hayashi, et al.
Orphanet Journal of Rare Diseases|May 22, 2021
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variantsPaula Hernández-Arévalo, José D Santotoribio, Rocío Delarosa-Rodríguez, et al.
Orphanet Journal of Rare Diseases|August 11, 2021
The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General HospitalNimish Mittal, Daniel Santa Mina, Laura McGillis, et al.
Orphanet Journal of Rare Diseases|August 12, 2021
Mannose supplementation in PMM2-CDGRoman Taday, Julien H Park, Marianne Grüneberg, et al.
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