Article
Mucolipidosis type IV: a mild form with late onset.
American journal of medical genetics - 1 Sept 1993
Reis S, Sheffer R N, Merin S, Luder A S, Bach G
Abstract excerpt
A 16-year-old girl is presented with mild clinical manifestations and late onset of mucolipidosis type IV (MLIV). The patient, an Ashkenazi Jew, has had minor motor difficulties and mild psychological disturbances since early childhood. Her vision began deteriorating at 12 years of age, due to bi...
Topics
- Adolescent
- Age of Onset
- Cells, Cultured
- Female
- Fibroblasts
- Gangliosides
- Humans
- Incidence
- Jews
- Mucolipidoses
- Phenotype
- Phospholipids
- Psychomotor Disorders
- Vision Disorders