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Lysosomal acid lipase deficiency in pediatric patients: a scoping review

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 th...

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Detalles Bibliográficos
Autores principales: Witeck, Camila da Rosa, Schmitz, Anne Calbusch, de Oliveira, Júlia Meller Dias, Porporatti, André Luís, De Luca Canto, Graziela, Pires, Maria Marlene de Souza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9432115/
https://www.ncbi.nlm.nih.gov/pubmed/33964214
http://dx.doi.org/10.1016/j.jped.2021.03.003