ArticlesGaucher's disease variant characterised by progressive calcification of heart valves and unique genotype
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Cited by (189)
Developmental and Inherited Liver Disease
2023, MacSween's Pathology of the Liver, Eighth EditionGaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients: Gaucher disease variants
2021, Archives of Medical ResearchDiagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes
2021, Molecular Genetics and MetabolismCitation Excerpt :Patients with the genotype p.D448H/p.D448H (D409H/D409H) are categorized as GD3c which is associated with cardiac calcifications and corneal opacities. Of note, corneal opacities have also been reported in patients from a variety of GD centers [73–76]. Morphological assessment of the affected corneas showed abnormal rough endoplasmic reticulum and lipid profiles, thought to result from glucosylceramide accumulation in keratocytes.
Human glucocerebrosidase mediates formation of xylosylcholesterol by β-xylosidase and transxylosidase reactions
2021, Journal of Lipid ResearchMolecular genetic analysis of Turkish Gaucher's disease patients reveals three novel variants in Glucocerebrosidase (GBA) gene
2020, Meta GeneCitation Excerpt :Specific to p.D448H mutation, 2 patients in our cohort presented severe cardiac involvement and diagnosed as Type IIIc GD patients. Similar cases with D448H/D448H genotype presenting cardiac symptoms were also reported from other ethnic populations including Spanish, British, German, Arabic, and Japanese (Abrahamov et al., 1995; Chabas et al., 1995; Uyama et al., 1992). Different from other ethnic populations, p.L335V is seen in Turkish GD patients.