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Orphanet Journal of Rare Diseases|February 21, 2024
A systematic review on the birth prevalence of metachromatic leukodystrophyShun-Chiao Chang, Aurore Bergamasco, Mélanie Bonnin, et al.
Orphanet Journal of Rare Diseases|February 15, 2024
Rare neurodevelopmental conditions and parents' mental health - how and when does genetic diagnosis matter?Zhaotian Chi, Rory T Devine, Jeanne Wolstencroft, et al.
Orphanet Journal of Rare Diseases|March 13, 2024
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one caseMateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, et al.
Orphanet Journal of Rare Diseases|March 8, 2024
The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional studyAmira Ahmed Elfituri, Manuel Joaquín De Nova, Mohammadamin Najirad
Orphanet Journal of Rare Diseases|March 11, 2024
Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndromeRowena Ng, Julia O'Connor, Deirdre Summa, et al.
Orphanet Journal of Rare Diseases|January 29, 2024
Coexistence of meningioma and craniofacial fibrous dysplasia: a case series of clinicopathological study and literature reviewXiaowen Song, Zhi Li
Orphanet Journal of Rare Diseases|August 4, 2023
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variantsMei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, et al.
Orphanet Journal of Rare Diseases|July 27, 2023
Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGHHong Chen, Suping Zhang, Yunteng Sun, et al.
Orphanet Journal of Rare Diseases|July 25, 2023
What is the awareness of rare diseases among medical students? A survey in BulgariaEleonora Hristova-Atanasova, Georgi Iskrov, Ivan Atanasov, et al.
Orphanet Journal of Rare Diseases|August 9, 2023
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresiaSofie Örnö Ax, Michaela Dellenmark-Blom, Kate Abrahamsson, et al.
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