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L-2-hydroxyglutaric aciduria in two siblingsSZTRIHA, Laszlo; GURURAJ, Aithala; VREKEN, Peter et al.Pediatric neurology. 2002, Vol 27, Num 2, pp 141-144, issn 0887-8994Article

Congenital insensitivity to pain with anhidrosisSZTRIHA, Laszlo; LESTRINGANT, Gilles G; HERTECANT, Jozef et al.Pediatric neurology. 2001, Vol 25, Num 1, pp 63-66, issn 0887-8994Article

Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin ProcessingALEF, Thomas; TORRES, Serena; HAUSSER, Ingrid et al.Journal of investigative dermatology. 2009, Vol 129, Num 4, pp 862-869, issn 0022-202X, 8 p.Article

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab EmiratesECKL, Katja Martina; STEVENS, Howard P; REIS, André et al.Human genetics. 2003, Vol 112, Num 1, pp 50-56, issn 0340-6717, 7 p.Article

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