Follow‐up on seven adult patients with mild Sanfilippo B‐disease
- 1 September 1987
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 28 (1) , 125-129
- https://doi.org/10.1002/ajmg.1320280118
Abstract
This report describes 7 patients, aged 30 to 43 years, suffering from a mild variant of Sanfilippo B‐disease. Somatic findings in these patients are unremarkable. Dementia and behavioral disturbances occurred late in the course of the disease. All 7 patients were examined 10 years previous to this study and reported in earlier publications [van de Kamp et al, 1976, 1981].Keywords
This publication has 9 references indexed in Scilit:
- Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patientsClinical Genetics, 2008
- Clinicopathological conference: An adolescent girl with severe mental impairment and mucopolysacchariduriaAmerican Journal of Medical Genetics, 1985
- Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new casesEuropean Journal of Pediatrics, 1983
- High-resolution electrophoresis of urinary glycosaminoglycans: An improved screening test for the mucopolysaccharidosesAnalytical Biochemistry, 1982
- Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)Clinical Genetics, 1981
- Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibshipClinical Genetics, 1979
- Clinical variability in Sanfilippo B disease: a report on six patients in two related sibshipsClinical Genetics, 1976
- Sanfilippo B disease in two related sibships. Biochemical studies in patients, parents and sibsClinical Genetics, 1976
- Morphological aspects of the MucopolysaccharidosesPublished by Springer Nature ,1975