Article
[Biochemical diagnosis of mucosulfatidosis].
Voprosy meditsinskoi khimii - 1 Jan 2000
Mirenburg T V, Lebedeva T V, Krasnopol'skaia K D, Bartseva O B, Kozlova V M, Bakharev V A
Abstract excerpt
Biochemical anomalies in proband involved alterations in the spectrum of glycosaminoglycans (GAG) excreted with urine as well as a decrease in activity of lysosomal sulfatases (arylsulfatases A and B, heparan-N-sulfatase) in homogenates of leukocytes and cultivated fibroblasts. In healthy parents of the proband activity of the sulfatases was lower than in control donors but higher as compared with the proband....
Topics
- Child, Preschool
- Clinical Enzyme Tests
- Female
- Fetal Diseases
- Genetic Carrier Screening
- Humans
- Infant, Newborn
- Lysosomes
- Mucopolysaccharidoses
- Phenotype
- Pregnancy
- Prenatal Diagnosis