Article
Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.
Clinica chimica acta; international journal of clinical chemistry - 1 Sept 2006
Kooper Angelique J A, Janssens Pim M W, de Groot Akosua N J A, Liebrand-van Sambeek Maria L F, van den Berg Catharina J M G, Tan-Sindhunata Gita B, van den Berg Paul P, Bijlsma Emilia K, Smits Arie P T, Wevers Ron A
Abstract excerpt
BACKGROUND: At least 20 inborn errors of metabolism may cause hydrops fetalis. Most of these are lysosomal storage diseases. The study proposes a diagnostic flowchart for prenatal diagnosis of non-immune hydrops fetalis. METHODS: This study contains a series of 75 non-immune hydrops fetalis pregnancies. Mucopolysaccharides, oligosaccharides, neuraminic acid and 21 lysosomal enzymes were measured in amniotic fluid...
Topics
- Amniotic Fluid
- Cathepsin A
- Cells, Cultured
- Female
- Gestational Age
- Glycosaminoglycans
- Humans
- Hydrops Fetalis
- Lysosomal Storage Diseases
- Lysosomes
- Mutation
- N-Acetylneuraminic Acid
- Oligosaccharides