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Orphanet Journal of Rare Diseases|August 26, 2022
Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION studyBruce Wang, Paolo Ventura, Kei-Ichiro Takase, et al.Orphanet Journal of Rare Diseases|August 26, 2022
Challenges, facilitators and barriers to the adoption and use of a web-based national IRD registry: lessons learned from the IRD-PT registryJoão Pedro Marques, Sara Vaz-Pereira, José Costa, et al.Orphanet Journal of Rare Diseases|January 7, 2022
Small fiber neuropathy for assessment of disease severity in amyotrophic lateral sclerosis: corneal confocal microscopy findingsJiayu Fu, Ji He, Yixuan Zhang, et al.Orphanet Journal of Rare Diseases|June 29, 2011
"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trialAmber E Ten Hoedt, Carla Em Hollak, Carolien Ca Boelen, et al.Orphanet Journal of Rare Diseases|June 21, 2011
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in FinlandEeva-Maria Laitinen, Kirsi Vaaralahti, Johanna Tommiska, et al.Orphanet Journal of Rare Diseases|June 22, 2011
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)Marlies J Valstar, Jan Pieter Marchal, Martha Grootenhuis, et al.Orphanet Journal of Rare Diseases|June 15, 2011
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuumSaqib Mahmood, Wasim Ahmad, Muhammad J HassanOrphanet Journal of Rare Diseases|June 22, 2011
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West GermanyMartin Lindner, Gwendolyn Gramer, Gisela Haege, et al.Orphanet Journal of Rare Diseases|June 23, 2011
9q22 Deletion--first familial caseLinda Siggberg, Maarit Peippo, Marjatta Sipponen, et al.Orphanet Journal of Rare Diseases|May 31, 2011
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristicsNathaniel Robb Whaley, Shinsuke Fujioka, Zbigniew K WszolekPageof 479