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Orphanet Journal of Rare Diseases|April 15, 2025
Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemiaI-Chih Ling, Dau-Ming Niu, Chia-Feng Yang, et al.
Orphanet Journal of Rare Diseases|April 6, 2025
Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature reviewSongqi Wang, Lei Sun, Jing Hu, et al.
Orphanet Journal of Rare Diseases|April 2, 2025
Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1Shanice Beerepoot, Lucas Grinwis, Adeline L Vanderver, et al.
Orphanet Journal of Rare Diseases|April 1, 2025
Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorderMousumi Bose, Tahra C Anglade, Chelsea I Donlon, et al.
Orphanet Journal of Rare Diseases|April 8, 2025
The RaDiCo information system for rare disease cohortsPaul Landais, Sonia Gueguen, Annick Clement, et al.
Orphanet Journal of Rare Diseases|April 17, 2025
The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterusLeilei Ding, Min Luo, Shan Deng, et al.
Orphanet Journal of Rare Diseases|May 14, 2025
Genetic variants of SLC6A4 and risk of coronary artery disease: insights from North Indian populationJyotdeep Kour Raina, Minakashee Sharma, Ravi Sharma, et al.
Orphanet Journal of Rare Diseases|May 15, 2025
Aspiration, respiratory complications, and associated healthcare resource utilization among individuals with Rett syndromeNazia Rashid, Jonathan D Darer, Charles Ruetsch, et al.
Orphanet Journal of Rare Diseases|May 15, 2025
Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia ForumBrigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, et al.
Orphanet Journal of Rare Diseases|May 12, 2025
Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United KingdomSara E Mole, Paul Gissen, Shannon Nordstrom, et al.
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