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Table 1 Description of the 7 MPS IVA patientsyr: years, mo: months

From: Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease

Features Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Patient 6 Patient 7
Consanguinity of the parents/degree 1st degree 1st degree 3rd degree 3rd degree 1st degree 1st degree 1st degree
Age of diagnosis (yr/mo) 3 8 3 5/4 4/5 7/7 7
Age of onset (yr/mo) 18 months 14 months 2 16 months 2/3 18 mo 3
Sex Male Female Male Female Female Female Female
Age (yr/mo) 15 13 9/8 8 11/7 Died at 7yr 14
Height cm (SD) 1 m (-4.8) 96 (-6) 95 (-5.9) 90 (-6.6) 96 (-8.4) 98 (-5) 122 (-4)
Weight kg (SD) 17 (-3.2) 14 (-3.3) 16 (-3.1) 15 (-2.3) 16 (-3) 15 (-2.3) 26 (-2.3)
GALNS assay (nmoles/h/mg prot) 0.04 0.02 0.03 Not done 0.005 0.06 0.07