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Orphanet Journal of Rare Diseases|November 6, 2010
Wolcott-Rallison syndromeCécile Julier, Marc NicolinoOrphanet Journal of Rare Diseases|December 3, 2010
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 geneChiara Redaelli, Rosalind A Coleman, Laura Moro, et al.Orphanet Journal of Rare Diseases|July 16, 2009
Pulmonary involvement in Kaposi sarcoma: correlation between imaging and pathologyTaisa Davaus Gasparetto, Edson Marchiori, Sílvia Lourenço, et al.Orphanet Journal of Rare Diseases|April 20, 2010
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case reportMohammed Al-Owain, Sarar Mohamed, Namik Kaya, et al.Orphanet Journal of Rare Diseases|May 29, 2010
Alpha-thalassaemiaCornelis L Harteveld, Douglas R HiggsOrphanet Journal of Rare Diseases|March 12, 2011
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 geneCaroline Sevin, Sacha Ferdinandusse, Hans R Waterham, et al.Orphanet Journal of Rare Diseases|April 19, 2015
Olmsted syndrome: clinical, molecular and therapeutic aspectsSabine Duchatelet, Alain HovnanianOrphanet Journal of Rare Diseases|April 19, 2015
Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcomeAbhijit Ricky Pal, Eveline J Langereis, Muhammad A Saif, et al.Orphanet Journal of Rare Diseases|June 4, 2020
CLN5 in heterozygosis may protect against the development of tumors in a VHL patientIsabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, et al.Pageof 471