title: Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene.
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: Tim
authors.initials: T
authors.lastname: Heshka
authors.forename: Mark A
authors.initials: MA
authors.lastname: Tarnopolsky
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Nakamura
authors.forename: Małgorzata J M
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D008969:Molecular Sequence Data
chemical_list: D002553:Cerebroside-Sulfatase