Sanfilippo B disease in two related sibships. Biochemical studies in patients, parents and sibs
- 1 November 1976
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 10 (5) , 273-278
- https://doi.org/10.1111/j.1399-0004.1976.tb00048.x
Abstract
In 2 related Sanfilippo B families, comprising 27 individuals, some biochemical parameters were studied. After detection of the patients, an attempt was made to distinguish between heterozygotes and normals. The excretion of glycosaminoglycans in the urine and N-acetyl-.alpha.-D-glucosaminidase activity in leukocytes and plasma were taken as parameters for the study. The determination of N-acetyl-.alpha.-D-glucosaminidase activity in plasma is considered to be the most suitable method for heterozygote detection.This publication has 10 references indexed in Scilit:
- Clinical variability in Sanfilippo B disease: a report on six patients in two related sibshipsClinical Genetics, 1976
- The use of α-l-iduronidase activity determinations in leucocytes for the detection of hurler and scheie syndromesClinica Chimica Acta; International Journal of Clinical Chemistry, 1975
- Sanfilippo B disease: Serum assays for detection of homozygous and heterozygous individuals in three familiesThe Journal of Pediatrics, 1973
- Sanfilippo Syndrome: Profound Deficiency of Alpha-Acetylglucosaminidase Activity in Organs and Skin Fibroblasts from Type-B PatientsProceedings of the National Academy of Sciences, 1972
- The Sanfilippo B corrective factor: A N-acetyl-α-D-glucosaminidaseBiochemical and Biophysical Research Communications, 1972
- Die säulenchromatographische Fraktionierung der sauren Mucopolysaccharide im HarnKlinische Wochenschrift, 1966
- A modified uronic acid carbazole reactionAnalytical Biochemistry, 1962
- The mucopolysaccharide of normal human urineClinica Chimica Acta; International Journal of Clinical Chemistry, 1956
- PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENTJournal of Biological Chemistry, 1951