Table 1.
Patient 1 | Patient 2 | Patient 3 | |
---|---|---|---|
Gender | Male | Male | Male |
| |||
Race | Caucasian | Caucasian | Caucasian |
| |||
CRIM status | Positive | Negative | Positive |
| |||
Mutations | |||
Allele 1 | c.307T>G | c.2560C>T | c.1655T>C |
| |||
Age at symptom onset | 3 months | 2 months | <1 month |
| |||
Age at diagnosis | 5.0 months | 4.0 months | 3.5 years |
| |||
Age at ERT start | 6.0 months | 4.5 months | 3.6 years |
CRIM, cross-reactive immunologic material; ERT, enzyme replacement therapy.