Article
Lysosomal disorders.
Seminars in neonatology : SN - 1 Feb 2002
Wraith J E
Abstract excerpt
Although most lysosomal storage disorders present in infancy or early childhood with a progressive condition often associated with dysmorphism, considerable genetic heterogeneity exists resulting in a range of illnesses that can include a dramatic neonatal presentation. Whilst some conditions present with a characteristic neonatal phenotype (e.g. Niemann-Pick disease type C), the remainder present in a...
Topics
- Abnormalities, Multiple
- Diagnosis, Differential
- Humans
- Hydrops Fetalis
- Infant, Newborn
- Lysosomal Storage Diseases
- Neonatal Screening
- Palliative Care
- Phenotype
- Prenatal Diagnosis