Title : New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease) - |
Author(s) : Gomez-Najera M , Barajas-Medina H , Gallegos-Rivas MC , Mendez-Sashida P , Goss KA , Sims KB , Tripuraneni R , Valles-Ayoub Y |
Ref : J Pediatr Gastroenterol Nutr , 60 :e22 , 2015 |
PubMedID: 24048164 |
Gene_locus related to this paper: human-LIPA |
Title : Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum - Cotman_2013_Curr.Neurol.Neurosci.Rep_13_366 |
Author(s) : Cotman SL , Karaa A , Staropoli JF , Sims KB |
Ref : Curr Neurol Neurosci Rep , 13 :366 , 2013 |
Abstract : |
PubMedSearch : Cotman_2013_Curr.Neurol.Neurosci.Rep_13_366 |
PubMedID: 23775425 |