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Orphanet Journal of Rare Diseases|November 23, 2011
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequenceTomoo Okada, Michio Miyashita, Junji Fukuhara, et al.Orphanet Journal of Rare Diseases|December 14, 2011
Laryngo-tracheo-oesophageal cleftsNicolas Leboulanger, Eréa-Noël GarabédianOrphanet Journal of Rare Diseases|April 7, 2012
Cystinuria: an inborn cause of urolithiasisThomas Eggermann, Andreas Venghaus, Klaus ZerresOrphanet Journal of Rare Diseases|March 3, 2012
Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, FranceVirginie Scotet, Ingrid Duguépéroux, Philippe Saliou, et al.Orphanet Journal of Rare Diseases|November 27, 2014
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and managementShuke Nie, Guiqin Chen, Xuebing Cao, et al.Orphanet Journal of Rare Diseases|November 8, 2014
Differences in immunoreactive trypsin values between type of feeding and ethnicity in neonatal cystic fibrosis screening: a cross-sectional studyErnesto Cortés, Ana María Roldán, Antonio Palazón-Bru, et al.Orphanet Journal of Rare Diseases|November 19, 2013
Drug development for exceptionally rare metabolic diseases: challenging but not impossibleMichelle Putzeist, Aukje K Mantel-Teeuwisse, Christine C Gispen-de Wied, et al.Orphanet Journal of Rare Diseases|November 16, 2019
Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver surveyAlexandra Morrison, Esmee Oussoren, Tabea Friedel, et al.Orphanet Journal of Rare Diseases|November 16, 2019
Systemic bevacizumab for high-output cardiac failure in hereditary hemorrhagic telangiectasia: an international survey of HHT centersHanny Al-Samkari, Hasan A Albitar, Scott E Olitsky, et al.Pageof 479