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Ben Turkia, H., Tebib, N., Azzouz, H., et al. (2008) Phenotypic Spectrum of Fucosidosis in Tunisia. Journal of Inherited Metabolic Disease, 31, S313-S316. http://dx.doi.org/10.1007/s10545-008-0891-0

has been cited by the following article:

• TITLE: Diagnosis of Fucosidosis through Cutaneous Manifestations

  AUTHORS: Bouguila Jihene, Mabrouk Sameh, Ben Turkia Hadhemi, Mokni Mourad, Boughammoura Lamia

  KEYWORDS: Angiokeratoma; Telangiectasies; Child; Fucosidosis

  JOURNAL NAME: Open Journal of Pediatrics, Vol.4 No.1, March 14, 2014

  ABSTRACT: Angiokeratoma corporis diffusum is a dermatological hallmark of several inherited lysosomal storage disorders including Anderson-Fabry disease and other enzyme deficiencies such as fucosidosis. We report a 4-year-old boy with neurodevelopment delay who was diagnosed as having fucosidosis following recognition of dermatological signs, angiokeratoma and telangiectasies. The diagnosis was confirmed by leukocyte oligosaccharide enzyme analysis.