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Orphanet Journal of Rare Diseases|January 16, 2013
Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell linesHeidi M Sampson, Hung Lam, Pei-Chun Chen, et al.
Orphanet Journal of Rare Diseases|January 30, 2013
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick diseaseHuiwen Zhang, Yu Wang, Zhuwen Gong, et al.
Orphanet Journal of Rare Diseases|January 30, 2013
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophyIvana Peluso, Ivan Conte, Francesco Testa, et al.
Orphanet Journal of Rare Diseases|January 31, 2013
Passive transfer of collagen XVII-specific antibodies induces sustained blistering disease in adult miceMircea Teodor Chiriac, Emilia Licarete, Alexandra Gabriela Sas, et al.
Orphanet Journal of Rare Diseases|February 15, 2013
Systematic review of central nervous system anomalies in incontinentia pigmentiSnežana Minić, Dušan Trpinac, Miljana Obradović
Orphanet Journal of Rare Diseases|February 16, 2013
New clinical and molecular insights on Barth syndromeLorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
Orphanet Journal of Rare Diseases|January 15, 2013
A possible cranio-oro-facial phenotype in Cockayne syndromeAgnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, et al.
Orphanet Journal of Rare Diseases|March 2, 2013
Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and GermanyPaola Giunti, Julia Greenfield, Alison J Stevenson, et al.
Orphanet Journal of Rare Diseases|July 23, 2013
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patientTaimoor I Sheikh, Kirti Mittal, Mary J Willis, et al.
Orphanet Journal of Rare Diseases|March 28, 2013
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational studyDeniz Güngör, Michelle E Kruijshaar, Iris Plug, et al.
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