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Orphanet Journal of Rare Diseases|April 8, 2024
The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtypeLiesbet D F M Van Hirtum, Tine Van Damme, Johan L K Van Hove, et al.
Orphanet Journal of Rare Diseases|April 2, 2024
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma, et al.
Orphanet Journal of Rare Diseases|April 4, 2024
Abnormal biochemical indicators of neonatal inherited metabolic disease in carriersFang Guo, Lingna Zhou, Feng Zhang, et al.
Orphanet Journal of Rare Diseases|October 16, 2023
First-line nivolumab plus ipilimumab for unresectable MPM in China: a cost-effectiveness analysisLiu Yang, Xiaobing Song, Wanxian Zeng, et al.
Orphanet Journal of Rare Diseases|October 26, 2023
Cost of illness in inclusion body myositis: results from a cross-sectional study in GermanyKatja C Senn, Simone Thiele, Karsten Kummer, et al.
Orphanet Journal of Rare Diseases|November 2, 2023
Costs of orphan medicinal products: longitudinal analysis of expenditure in WalesYankier Pijeira Perez, Eifiona Wood, Dyfrig A Hughes
Orphanet Journal of Rare Diseases|October 31, 2023
The favorable outcome of Bernese periacetabular osteotomy for the hip osteoarthritis in multiple epiphyseal dysplasiaYao-Yuan Chang, Chia-Che Lee, Sheng-Chieh Lin, et al.
Orphanet Journal of Rare Diseases|November 11, 2023
Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative studyAina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, et al.
Orphanet Journal of Rare Diseases|September 11, 2023
Metabolomic profiling of Wilson disease, an inherited disorder of copper metabolism, and diseases with similar symptoms but normal copper metabolismYijie Qiu, Mingchuan Su, Xina Xiao, et al.
Orphanet Journal of Rare Diseases|September 8, 2023
The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based studyYasas D Kolambage, Yasaswi N Walpita, Udari A Liyanage, et al.
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