Table 1.

Demographics, genotypes, and other clinical and laboratory characteristics of patients with FD. ERT—enzyme replacement therapy; CT—chaperone therapy. * ERT: Repragal and later Fabrazyme.

No.	Age (Years)	Sex M/F	Genotype (Allele 1/Allee2)	Plasma Lyso-Gb-3 ng/mL	Urine Lyso-Gb3 µg/mmol/cr	Therapy (Years)
FD subjects without cardiomyopathy
1	25	F	c.718_719del	0.46	8.3	* ERT > 10
2	45	F	C223Y	2.9	70	ERT 5–10
3	46	F	c.966DelC	-	-	ERT < 5
4	21	F	R49P	2.9	<6	ERT > 10
5	18	F	R363 H	0.3	8.6	ERT < 5; CT-2; ERT 2
6	27	F	c1033_1034delTC	1.4	220	* ERT > 10
7	33	F	c.1072_1074del	6.9	151	naïve
8	28	M	422C>T	11	41	ERT > 10
9	18	M	R49P	11	19	* ERT > 10
10	36	M	M296V	0.84	102	ERT 5
11	53	M	A143T	0.39	14	CT > 10
12	39	F	N215S	0.3	18	ERT-2; CT-4
13	56	F	G328R	5.2	15	* ERT > 10
14	68	F	C2233Y	4.5	31	ERT < 5
15	26	M	c.718_719delAA	13	825	ERT < 5
16	58	M	T41I	0.4	13	CT < 5
17	42	M	N215S	1.1	57	ERT > 10
FD subjects with hypertrophic cardiomyopathy (HCM)
18	57	F	R49P	4.9	40	* ERT > 10
19	41	F	R301X	11	63	ERT < 5
20	46	F	c.718_719delAA	2.9	-	*ERT > 10
21	46	F	Q279E	2.1	32	CT < 5
22	44	F	Arg227Gln	2.9	17	ERT < 5
23	21	F	c1033_1034delTC	2.1	84	CT < 5
24	22	F	D244N	5.3	96	*ERT 5–10
25	42	F	G325D	2.6	29	ERT > 10
26	62	F	Gly325Asp	2.7	17	ERT > 10
27	40	F	A143T	0.3	141	CT < 5
28	59	F	R118C	0.1	101	naive
29	24	M	W277X	18	620	ERT 5–10
30	42	M	R227Q	15	92	ERT > 10
31	34	M	V296E	14	1107	*ERT > 10
32	26	M	G325D	17	177	* ERT > 10
33	20	M	G325D	5.3	8.7	ERT < 5
34	25	M	Y134D	6.9	6.4	ERT > 10
35	53	M	Y207C	12	413	* ERT > 10
36	65	F	N215S	0.6	24	ERT 5–10
37	40	F	c.718_719del	0.3	21	ERT >10
38	45	F	R363H	0.3	21	ERT 5–10
39	23	M	c.966DelC	-	-	ERT 5–10
40	43	M	c1033_1034delTC	77	1033	ERT < 5 y
41	34	M	A143T	0.9	34	ERT < 5
42	65	M	C223Y	20	231	ERT > 10
43	58	M	c.777del	17	33	* ERT > 10
44	58	M	c.717_718del Frameshift	19	1257	* ERT > 10
45	48	M	c.1072_1074del	12	38	ERT 5–10