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https://www.readbyqxmd.com/read/23119899/cherubism
#1
Neelima Gupta, P P Singh, Usha Rani Singh
Cherubum is a benign. fanilial giant cell lesion characterised by gradually prirgeesive panless swelling of the jaws. A study involving, suffering from this rare disarder is preunted. The differentdal dingnosis ON bath clincal charcteristics and hisioktical ftvltitgs is disussed. The conficting treatmem policlm with respect to non-treatment and surgirai recentouring with curenage, are also reviewed.
July 2002: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/11911/characterization-of-alpha-l-fucosidase-from-two-different-families-with-fucosidosis
#2
J Troost, M C van der Heijden, G E Staal
1. Two different families with a different type of fucosidase deficiency are described. 2. In the first family the activity of alpha-L-fucosidase in leucocytes of two patients with fucosidosis type I was about 4 to 8% of the normal value. The activity of alpha-L-fucosidase in the leucocytes of the father and the mother are in the heterozygote range, while a sister of the propositus showed normal values. 3. The activity of alpha-L-fucosidase of the propositus from urine, serum and liver were also severely decreased...
December 1, 1976: Clinica Chimica Acta; International Journal of Clinical Chemistry
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