08 June 2021>: Articles
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 Tang A* , Qi Ying Wong B , Ingrid Pao Lin Ting B , Panting Selvesten B , Siaw Tze Yeo B , Lee Ping Chew D , Tem Lom Fam D , Clare Hui Hong Tan EDOI: 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.