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A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
Mirabelli-Badenier M, Severino M, Tappino B, Tortora D, Camia F, Zanaboni C, Brera F, Priolo E, Rossi A, Biancheri R, Di Rocco M, Filocamo M. Mirabelli-Badenier M, et al. Among authors: tortora d. Metab Brain Dis. 2015 Jun;30(3):681-6. doi: 10.1007/s11011-014-9612-6. Epub 2014 Aug 26. Metab Brain Dis. 2015. PMID: 25156245
Diagnostic Approach to Pediatric Spine Disorders.
Rossi A, Martinetti C, Morana G, Severino M, Tortora D. Rossi A, et al. Among authors: tortora d. Magn Reson Imaging Clin N Am. 2016 Aug;24(3):621-44. doi: 10.1016/j.mric.2016.04.001. Magn Reson Imaging Clin N Am. 2016. PMID: 27417404 Review.
145 results