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Orphanet Journal of Rare Diseases|November 19, 2020
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomesPâmella Borges, Gabriela Pasqualim, Roberto Giugliani, et al.
Orphanet Journal of Rare Diseases|November 20, 2020
Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort studyElina Holopainen, Svetlana Vakkilainen, Outi Mäkitie
Orphanet Journal of Rare Diseases|November 18, 2020
Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation methodHa Trang, Pauline Bourgeois, Fawzia Cheliout-Heraut
Orphanet Journal of Rare Diseases|June 1, 2021
Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature reviewRoland Stengl, Bence Ágg, Miklós Pólos, et al.
Orphanet Journal of Rare Diseases|June 1, 2021
Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patientsXiaohui Duan, Xiaoxuan Liu, Guochun Wang, et al.
Orphanet Journal of Rare Diseases|February 19, 2020
Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?C Tornero, V Navarro-Compán, J A Tenorio, et al.
Orphanet Journal of Rare Diseases|February 20, 2020
The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disordersKaustuv Bhattacharya, Walid Matar, Adviye Ayper Tolun, et al.
Orphanet Journal of Rare Diseases|February 9, 2020
Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilitiesMendy M Welsink-Karssies, Kim J Oostrom, Merel E Hermans, et al.
Orphanet Journal of Rare Diseases|February 28, 2020
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosisAurore Curie, Nathalie Touil, Ségolène Gaillard, et al.
Orphanet Journal of Rare Diseases|March 8, 2020
Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational studyMónica Inês, Teresa Coelho, Isabel Conceição, et al.
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