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. Author manuscript; available in PMC: 2013 Aug 15.
Published in final edited form as: Genet Med. 2012 Oct 11;15(2):123–131. doi: 10.1038/gim.2012.110

Table 1.

Patient demographics, cross-reactive immunologic material status, and mutation data

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.