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Table 1 Clinical, biochemical, and molecular characteristics of patients with Morquio A disease who participated in study

From: Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

PatientAgeGenderRace, ethnicityCountry of originGALNS activityTotal GlycosaminoglycansGALNS mutationHeightPhenotype
 (years)    NR (149.4–207.9 ng/mg Cre) (z-score) 
112.7FemaleCaucasianIraq40 pmol/mg/h2799.55 ng/mg Crec.230 C > G / c.230 C > G−7.0Severe
     (NR 400–2000)    
28.3MaleCaucasianIraq28 pmol/mg/h1924.52 ng/mg Crec.230 C > G / c.230 C > G−6.1Severe
     (RR 400–2000)    
338.4MaleCaucasianUS0.06 nmol/mg/h1158.20 ng/mg Crec.1353 G > T / c.1353 G > T−3.4Attenuated
     (NV 0.95)    
46.4FemaleChineseChina0.58 nmol/17 h/ mg2266.21 ng/mg Crec.106_111delCTGCTC / c.953 T > G−6.0Severe
     (RR 42.3–441.9)    
518.3MaleHispanicMexicoNot Available479.51 ng/mg Crec.1156C > T / 32 kb del−8.11Severe
63.9MaleHispanicUSNot Available1753.43 ng/mg Crec.901G > T / c.1520G > T−3.73Severe
78.5FemaleCaucasianUSDeficientNot Availablec.239C > T /?−6.77Severe
84.6FemaleCaucasianUSNot AvailableNot Availablec.239C > T /?−6.34Severe
925.9MaleHispanicUSDeficientQualitatively ElevatedNot Available−6.09Severe
1022.2MaleHispanicUS7000 UElevatedc.1156C > T / c.924 T > G + c.930G > C−9.0Severe
     (RR > 40,000)    
1110.4FemaleHispanic / CaucasianUS0.05 UQualitatively Elevatedc.776G > A / c.1520G > T−2.23Attenuated
     (RR > 0.7)    
1216.1MaleHispanicUS0 nmol / 17 h / mg8.4 mg/mmol Creatc.281G > A / c.1156C > T−4.27Severe
     (RR > 92)(NR < 6.5)