Mastering the dilemma of rare diseases.

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics (2007) 1.53

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99

Rapidly progressive vanishing white matter disease in a child with previously inconspicuous brain MRI. Neuropediatrics (2006) 1.38

Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol (2009) 1.23

Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. Eur J Pediatr (1990) 0.84

Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008; 93:e11-13. Haematologica (2008) 0.75