Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA et al.

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

Int J Cardiol. 2014;177:400-8

Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM et al.

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.

Pediatr Res. 2008 ;64:550-5

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM et al.

Fabry disease in infancy and early childhood: a systematic literature review.

Genet Med. 2015;17:323-30. 

Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P et al.

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Clin Genet. 2019 ;96:107-117.