Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings

Pérez-Cabeza, María Isabel; Borrás, Fátima; Moreno-Medinilla, E.; Bardán-Rebollar, Daniel; Ferrer-López, Isaac; Rodríguez-García, Enrique; Jiménez-Machado, Rocío; Castro-Vega, Isabel; Benito, Carmen; Escudero, Julia; Yahyaoui, Raquel

doi:10.1016/j.jaapos.2018.08.008

Cited by 1 publication

(1 citation statement)

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“…Type II sialidosis, on the other hand, is a more severe form and is categorized into three subtypes: Congenital, infantile, and juvenile. Congenital sialidosis type II is formed in utero following the second trimester of pregnancy and is accompanied by non-immunological dropsy or isolated fetal ascites (Ahn et al, 2019;Pérez-Cabeza et al, 2019). Patients are stillborn, or the disease is diagnosed at birth.…”

Section: Sialidases In Hereditary Diseasesmentioning

confidence: 99%

Unveiling the Impact of Endogenous Sialidases on Human Non-Infectious Disease Pathogenesis

Surkova,

Poznyak,

Kashirskikh

et al. 2024

OnLine Journal of Biological Sciences

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In our review, we have compiled existing information regarding the role of endogenous sialidases (neuraminidases) in the initiation and development of various non-infectious processes in humans. Precisely, pathologies of the cardiovascular system, tumor formations, neurological and metabolic disorders, and hereditary diseases. Sialidases appeared to be widely involved in a variety of human pathologies. An increase or decrease in the enzymatic activity of sialidase can be a triggering factor in the pathogenesis of these disorders. This led us to the conclusion that enzymes of this family are essential for the normal functioning of human organisms. Therefore, with a detailed study of the characteristics and functions of sialidase, it is possible to develop new and effective diagnostic methods, treatment strategies, and prevention of many important human diseases. In this review, we are linking all sialidase-related features of different diseases, which can set a direction for further studies.

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Section: Sialidases In Hereditary Diseasesmentioning

confidence: 99%