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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 E

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.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923