Lysosomal acid lipase deficiency in pediatric patients: a scoping review.

ABSTRACT:

Objective

Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D in pediatric patients through a scope review.

Sources

Electronic searches in the Embase, PubMed, Livivo, LILACS, Web of Science, Scopus, Google Scholar, Open Gray, and ProQuest Dissertations and Theses databases. The dataset included observational studies with clinical and laboratory characteristics of infants, children and adolescents diagnosed with lysosomal acid lipase deficiency by enzyme activity testing or analysis of mutatio

SUBMITTER: Witeck CDR 

PROVIDER: S-EPMC9432115 | biostudies-literature | 2022 Jan-Feb

REPOSITORIES: biostudies-literature