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Orphanet Journal of Rare Diseases|July 10, 2025
Primary intestinal lymphangiectasia: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)Stéphane Vignes, Mathieu Uzzan, Lionel Arrivé, et al.
Orphanet Journal of Rare Diseases|July 10, 2025
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencingMona M Makhamreh, Kavya Shivashankar, Stephanie M Rice, et al.
Orphanet Journal of Rare Diseases|July 24, 2025
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophyTakanori Onuki, Makiko Tajika, Yohei Sugiyama, et al.
Orphanet Journal of Rare Diseases|July 29, 2025
Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomesEdwin Ferren, Paul R Hillman, Amy Kritzer, et al.
Orphanet Journal of Rare Diseases|August 8, 2025
Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafnessHanan AlQudairy, Mohammad A AlMuhaizea, Mohamed Tohary, et al.
Orphanet Journal of Rare Diseases|August 5, 2025
Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomesLaura E MacMullen, Elizabeth Reynolds, Marissa Weis, et al.
Orphanet Journal of Rare Diseases|June 3, 2025
Late-onset fabry disease presenting with unexplained renal failure, left ventricular hypertrophy, and recurrent syncope: a case reportQisu Ying, Xiu Yang, Ning Zhao, et al.
Orphanet Journal of Rare Diseases|May 6, 2025
Reporting preclinical gene therapy studies in the field of Niemann-Pick type C disease according to the ARRIVE guidelinesCharlotte Laurfelt Munch Rasmussen, Annette Burkhart, Torben Moos, et al.
Orphanet Journal of Rare Diseases|May 6, 2025
Postmarketing adverse events associated with onasemnogene abeparvovec: a real-world pharmacovigilance studyTianyu Chen, Qiying Chen, Jingfang Ye, et al.
Orphanet Journal of Rare Diseases|May 7, 2025
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient surveyKarolina M Stepien, Sophie Thomas, Julia B Hennermann, et al.
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