Table 1.

Characteristics of the patients enrolled in the study

Patient ID	Phenotype	Type of mutation	Age at diagnosis	Age at start of ERT
Group A
A1	Severe	Intragenic deletion	0.9	1.6
A2	Severe	Missense	1.0	1.6
A3	Severe	Missense	2.2	2.3
A4	Attenuated	Small deletion	1.8	2.4
A5	Attenuated	Splicing mutation	2.4	2.6
A6	Severe	Small deletion	2.8	2.9
A7	Attenuated	Two in cis missense	1.3	3.3
A8	Severe	Missense	2.8	3.4
A9	Severe	Splicing mutation	3.2	3.4
A10	Attenuated	Two in cis missense	n.a.	3.7
A11	Severe	Missense	3.5	3.7
A12	Severe	Missense	4.4	4.7
A13	Severe	Missense	4.7	5.0
Group B
B1	Severe	Small deletion	2.5	5.3
B2	Attenuated	Nonsense	n.a.	6.9
B3	Severe	Missense	2.2	7.7
B4	Severe	Recombination	3.1	8.0
B5	Attenuated	Nonsense	4.5	9.0
B6	Severe	Missense	7.1	9.2
B7	Severe	Missense	7.8	11.4
Group C
C1	Severe	Missense	4.3	12.7
C2	Severe	Nonsense	4.0	15.8
C3	Attenuated	Missense	3.8	16.3
C4	Attenuated	n.i.	6.8	16.7
C5	Attenuated	Missense	15.5	18.7
C6	Attenuated	Missense	15.2	18.8
C7	Severe	Nonsense	4.1	27.0

Age at start of ERT: group A ≤5 years, group B >5 and ≤ 12 years, group C >12 years (n.i. = not identified).