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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)

Figure 1

Histological and electron microscopic results of cardiomyocytes of case 20, an IVS4 + 919G > A mutation male, obtained by endocardial muscle biopsy (A) Hematoxylin and eosin (H&E) staining showed a high degree of vacuolization (arrows) in cardiomyocytes due to lysosomal globotriaosylceramide (Gb3) accumulation. (B) Toluidine blue stain revealed cytoplasmic granular inclusions (arrow) because of Gb3 accumulations. (C) (D) Electron microscopy revealed the characteristic Gb3 concentric lamellar myelin bodies in cardiomyocytes.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172