Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship
- 1 June 1979
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 15 (6) , 500-504
- https://doi.org/10.1111/j.1399-0004.1979.tb00832.x
Abstract
Clinical heterogeneity for Sanfilippo B syndrome (mucopolysaccharidosis type III B; MPS III B) in the same family was not previously reported. Two clinically severe cases and 1 clinically mild case of MPS III B are described in an Italian sibship. N-acetyl-.alpha.-D-glucosaminidase activity was not detected in the sera of either the severe or mild cases. Mucopolysacchariduria mainly due to heparan sulfate excretion was consistently high in the severely affected patients and extremely variable in the mildly affected one.Keywords
This publication has 7 references indexed in Scilit:
- Mild and severe Hunter syndrome (MPS II) within the same sibshipsClinical Genetics, 1977
- Sanfilippo B disease: Serum assays for detection of homozygous and heterozygous individuals in three familiesThe Journal of Pediatrics, 1973
- Sequential thin layer chromatography of urinary acidic glycosaminglycansClinica Chimica Acta; International Journal of Clinical Chemistry, 1972
- 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
- Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type)The Journal of Pediatrics, 1963
- A modified uronic acid carbazole reactionAnalytical Biochemistry, 1962