Morquio-Ullrich's Disease: An Inborn Error of Metabolism?
Open Access
- 1 October 1962
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 37 (195) , 525-534
- https://doi.org/10.1136/adc.37.195.525
Abstract
The clinical and biochemical findings in 3 Greenlandish siblings with Morquio-Ullrich''s disease are presented. The appearance and the radiological changes are similar to the find-ings in Morquio-Brailsford''s disease, but in addition the 3 siblings were severely mentally retarded and had an abnormal excretion of acid mucopolysaccharides in the urine. The parents were closely related. The disease seems to be due to a recessively inherited enzymatic defect.This publication has 21 references indexed in Scilit:
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