New CTSA mutation in early infantile galactosialidosis

Pediatr Int. 2018 Aug;60(8):761-762. doi: 10.1111/ped.13604. Epub 2018 Jul 10.
No abstract available

Keywords: CTSA mutation; early infantile galactosialidosis; lysosomal storage disease; next-generation sequencing.

Publication types

  • Case Reports

MeSH terms

  • Cathepsin A / genetics*
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Infant
  • Infant, Newborn
  • Lysosomal Storage Diseases / diagnosis
  • Lysosomal Storage Diseases / genetics*
  • Male
  • Mutation

Substances

  • CTSA protein, human
  • Cathepsin A

Supplementary concepts

  • Neuraminidase deficiency with beta-galactosidase deficiency

Associated data

  • GENBANK/NM_000308