Lysosomal acid lipase deficiency in pediatric patients: a scoping review

Autor: Witeck, Camila da Rosa, Schmitz, Anne Calbusch, de Oliveira, Júlia Meller Dias, Porporatti, André Luís, De Luca Canto, Graziela, Pires, Maria Marlene de Souza
Zdroj: Jornal de Pediatria; January-February 2022, Vol. 98 Issue: 1 p4-14, 11p
Abstrakt: 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.
Databáze: Supplemental Index