Lysosomal Storage DiseasesArchives
Spanish consensus on managing pregnancy in women with Gaucher disease
Lysosomal Storage Diseases 5 min.
Gaucher disease (GD: MIM#230800)) is an inherited metabolic disorder resulting from mutations in the gene that encodes the enzyme glucocerebrosidase (acid β-glucosidase; EC 3.2.1.45) that produces a deficient activity of β -glucocerebrosidase and the subsequent accumulation of the glycolipid...
Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease
Lysosomal Storage Diseases 10 min.
Most studies about artificial intelligence (AI) and rare diseases were published in the past couple of years, illustrating the rapid development of a new era for accurate screening, management, and care of patients with rare diseases [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11–12]. AI is a technology that...
Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment
Lysosomal Storage Diseases 8 min.
Gaucher disease (GD) is a rare lysosomal storage disease caused by deficient enzymatic activity of β-glucocerebrosidase, leading to accumulation of glucocerebroside in the lysosomes of monocytes and macrophages in liver, bone marrow, and spleen tissues [1]. The global prevalence and incidence of...
Deep learning assisted retinal microvasculature assessment and cerebral small vessel disease in Fabry disease
Lysosomal Storage Diseases 5 min.
Fabry disease (FD, OMIM #301500) is a rare, potentially lethal X-linked disorder, with an incidence of 1 in 40,000 to 1 in 117,000 live births [1, 2]. This condition arises from a genetic deficiency in the lysosomal enzyme α-galactosidase A (α-Gal A) due to mutations in the GLA gene [1]....
