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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

Patient

Age

Gender

Race, ethnicity

Country of origin

GALNS activity

Total Glycosaminoglycans

GALNS mutation

Height

Phenotype

 

(years)

    

NR (149.4–207.9 ng/mg Cre)

 

(z-score)

 

1

12.7

Female

Caucasian

Iraq

40 pmol/mg/h

2799.55 ng/mg Cre

c.230 C > G / c.230 C > G

−7.0

Severe

     

(NR 400–2000)

    

2

8.3

Male

Caucasian

Iraq

28 pmol/mg/h

1924.52 ng/mg Cre

c.230 C > G / c.230 C > G

−6.1

Severe

     

(RR 400–2000)

    

3

38.4

Male

Caucasian

US

0.06 nmol/mg/h

1158.20 ng/mg Cre

c.1353 G > T / c.1353 G > T

−3.4

Attenuated

     

(NV 0.95)

    

4

6.4

Female

Chinese

China

0.58 nmol/17 h/ mg

2266.21 ng/mg Cre

c.106_111delCTGCTC / c.953 T > G

−6.0

Severe

     

(RR 42.3–441.9)

    

5

18.3

Male

Hispanic

Mexico

Not Available

479.51 ng/mg Cre

c.1156C > T / 32 kb del

−8.11

Severe

6

3.9

Male

Hispanic

US

Not Available

1753.43 ng/mg Cre

c.901G > T / c.1520G > T

−3.73

Severe

7

8.5

Female

Caucasian

US

Deficient

Not Available

c.239C > T /?

−6.77

Severe

8

4.6

Female

Caucasian

US

Not Available

Not Available

c.239C > T /?

−6.34

Severe

9

25.9

Male

Hispanic

US

Deficient

Qualitatively Elevated

Not Available

−6.09

Severe

10

22.2

Male

Hispanic

US

7000 U

Elevated

c.1156C > T / c.924 T > G + c.930G > C

−9.0

Severe

     

(RR > 40,000)

    

11

10.4

Female

Hispanic / Caucasian

US

0.05 U

Qualitatively Elevated

c.776G > A / c.1520G > T

−2.23

Attenuated

     

(RR > 0.7)

    

12

16.1

Male

Hispanic

US

0 nmol / 17 h / mg

8.4 mg/mmol Creat

c.281G > A / c.1156C > T

−4.27

Severe

     

(RR > 92)

(NR < 6.5)