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Orphanet Journal of Rare Diseases|January 20, 2026
Targeted questionnaires improve detection of early gastrointestinal symptoms in young children with Fabry diseaseAnika Quillin, Hannah Waddel, Gwen Gunn, et al.
Orphanet Journal of Rare Diseases|January 24, 2026
Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunitTianqi Tao, Liwen Lin, Yanyan Tang, et al.
Orphanet Journal of Rare Diseases|January 13, 2026
Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in IranMaryam Nasri, Nejat Mahdieh, Farzaneh Abbasi, et al.
Orphanet Journal of Rare Diseases|November 26, 2025
Human, economic, and social impact of lysosomal storage diseasesEduardo Brignani, María José de Castro-López, Antonio Gonzalez-Meneses, et al.
Orphanet Journal of Rare Diseases|November 25, 2025
Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric studyEmily Liebling, Caroline Freychet, Valentina Guarnieri, et al.
Orphanet Journal of Rare Diseases|November 22, 2025
Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencingYuqi Yang, Ying Wang, Bin Zhang, et al.
Orphanet Journal of Rare Diseases|November 22, 2025
Concurrent nanotherapeutics and regulatory updates for the management of amyotrophic lateral sclerosis: a focused review for orphan drug (Tofersen)Abhiram Kumar, Shivang Shukla, Anjali Rai, et al.
Orphanet Journal of Rare Diseases|November 18, 2025
Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendationsBedour Handoom, Eman Alohali, Hifa Elsagher, et al.
Orphanet Journal of Rare Diseases|November 14, 2025
Animal models of methylmalonic acidemia: insights and challengesShan Shan, Min Liu, Yue Ma, et al.
Orphanet Journal of Rare Diseases|November 19, 2025
A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022)Frank Hernández-García, Helena Gil-Peña, José M López, et al.
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