06 August 2021
: Case report
First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia
Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)
Andy Sing Ong Tang1ABCDEF*, Qi Ying Wong1BCD, Ingrid Pao Lin Ting
DOI: 10.12659/AJCR.932923
Am J Case Rep 2021; 22:e932923
Figure 2. The results of family screening and pedigree from index patients 1 and 2. The index patient is marked by an oblique arrow. A – leukocyte α-gal A enzyme activity; L – Lyso-Gb3 level; G – genotype; NC – not checked/refused.