First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease

Lysosomal acid lipase (LAL) is a necessary enzyme for the hydrolysis of both triglycerides (TGs) and cholesteryl esters (CEs) in the lysosome. Deficiency of this enzyme encoded by the lipase A (LIPA) gene leads to LAL deficiency (LAL-D). A severe disease subtype of LAL-D is known as Wolman disease (...

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Detalles Bibliográficos
Autores principales: Elaraby, Nesma M., Galal, Eman Reda, Abdel-Hamid, Mohamed, Elbendary, Hasnaa M., Elbadry, Mohamed, Mekkawy, Mona K., Ashaat, Neveen A., Mounir, Samir M., Ashaat, Engy A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10517033/
https://www.ncbi.nlm.nih.gov/pubmed/37470904
http://dx.doi.org/10.1007/s12031-023-02139-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10517033/
https://www.ncbi.nlm.nih.gov/pubmed/37470904
http://dx.doi.org/10.1007/s12031-023-02139-6

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