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Orphanet Journal of Rare Diseases|March 21, 2013
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypesCatharina M L Touw, G Peter A Smit, Klary E Niezen-Koning, et al.
Orphanet Journal of Rare Diseases|November 15, 2011
A rare bladder cancer--small cell carcinoma: review and updateNabil Ismaili
Orphanet Journal of Rare Diseases|December 27, 2011
Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patientsNaïm Bouazza, Jean-Marc Tréluyer, Chris Ottolenghi, et al.
Orphanet Journal of Rare Diseases|December 28, 2011
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2KJulien Cassereau, Arnaud Chevrollier, Dominique Bonneau, et al.
Orphanet Journal of Rare Diseases|November 17, 2011
The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiencyAleksandra Szczawinska-Poplonyk, Zdzislawa Kycler, Barbara Pietrucha, et al.
Orphanet Journal of Rare Diseases|November 19, 2011
Coordinated multidisciplinary care for ambulatory Huntington's disease patients. Evaluation of 18 months of implementationRuth B Veenhuizen, Branda Kootstra, Wilma Vink, et al.
Orphanet Journal of Rare Diseases|June 9, 2012
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective studyPaola Pierucci, Gennaro M Lenato, Patrizia Suppressa, et al.
Orphanet Journal of Rare Diseases|June 9, 2012
Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfectaTaro Muto, Keiko Miyoshi, Taigo Horiguchi, et al.
Orphanet Journal of Rare Diseases|June 9, 2012
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlationsAndreas Herzog, Ralf Hartung, Arnold J J Reuser, et al.
Orphanet Journal of Rare Diseases|May 30, 2012
Cherubism: best clinical practiceMaria E Papadaki, Steven A Lietman, Michael A Levine, et al.
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