
doi: 10.1007/bf02748520
pmid: 3091494
Seven hundred children referred to the clinic for mental retardation were screened for various inborn errors of metabolism. Eighteen were found to have mucopolysaccharidoses (MPS). Ten of these children were followed for a period of five years. Three of them died. Two of them had type 1 MPS, based on physical findings, biochemical investigations and deficient iduronidase activities of leucocytes. There were seven patients with MPS type II in this series. Two pairs were siblings. Skin cultures carried out in Dr Neufeld's Laboratory showed iduronate sulphatase deficiency. Three patients had type IV mucopolysaccharidoses. Two were siblings. In one patient leucocyte beta-galactosidase activity was about 1/8th of normal control. One patient had MPS type VI; her leucocytes had no detectable aryl sulfatase B. One patient had unclassifiable MPS. They had some clinical improvement as a result of parental care but the progression of the disease has remained unaffected.
Male, Infant, Newborn, India, Infant, Mucopolysaccharidoses, Child, Preschool, Intellectual Disability, Humans, Female, Child
Male, Infant, Newborn, India, Infant, Mucopolysaccharidoses, Child, Preschool, Intellectual Disability, Humans, Female, Child
| selected citations These citations are derived from selected sources. This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 4 | |
| popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Average | |
| influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Average | |
| impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Average |
