title: [In Process Citation].
authors.forename: E Z
authors.initials: EZ
authors.lastname: Giannopoulou
authors.forename: R
authors.initials: R
authors.lastname: Furtwängler
authors.forename: F
authors.initials: F
authors.lastname: Bürger
authors.forename: D
authors.initials: D
authors.lastname: Schöndorf
authors.forename: L
authors.initials: L
authors.lastname: Gortner
authors.forename: S
authors.initials: S
authors.lastname: Meyer
mesh_terms: D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D052536:Niemann-Pick Disease, Type A / Q000175:diagnosis* / Q000235:genetics*; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*
chemical_list: C543066:SMPD1 protein, human; D013108:Sphingomyelin Phosphodiesterase