| Autor: |
Seedat YK, Narrandes R, Maharaj IC |
| Jazyk: |
angličtina |
| Zdroj: |
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde [S Afr Med J] 1981 Mar 07; Vol. 59 (10), pp. 342-3. |
| Abstrakt: |
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: |
MEDLINE |
| Externí odkaz: |
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