For example, in a patient with the atypical autosomal recessive sialic acid storage disease (SASDs) [infantile sialic acid storage disease (ISSD; OMIM: #269920)/Salla disease (SD; OMIM: #604369)], a homozygous large (6040 bp) intronic transposal insertion (LINE-1) in intron 9 of SLC17A5 was identified by ES followed by RNA and genomic DNA analysis after previous negative results by targeted Sanger sequencing [11] (Table 1). The gene discussed is SLC17A5; the disease is Salla disease.