Molecular and clinical studies in five index cases with novel mutations in the GLA gene
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文摘

FD is confirmed by the absent α-GAL activity in Fabry males and GLA causative mutation.

The probands with mutations reported here manifested clinical symptomatology of FD.

Unclear phenotype–genotype correlation is one of the main causes of missed FD diagnoses.

A proper clinical approach with FD familiarity could reduce the delay between onset and diagnosis.

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