| Autor: |
Y K, Seedat, R, Narrandes, I C, Maharaj |
| Rok vydání: |
1981 |
| Předmět: |
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| Zdroj: |
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 59(10) |
| ISSN: |
0256-9574 |
| Popis: |
A black patient who presented with the clinical features of a mucopolysaccharidosis is described. Biochemical investigations showed that the proband had type II B mucopolysaccharidosis (Hunter's syndrome), and a family study revealed that a further 2 males were affected. This suggested that the inheritance was hemizygous for the X-linked gene and that the mother was the obligate carrier. Documented cases of mucopolysaccharidosis among Blacks are uncommon in the literature. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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