Lysosomal acid lipase deficiency in pediatric patients: a scoping review

• 主要な著者: Camila da Rosa Witeck (著者), Anne Calbusch Schmitz (著者), Júlia Meller Dias de Oliveira (著者), André Luís Porporatti (著者), Graziela De Luca Canto (著者), Maria Marlene de Souza Pires (著者)
• フォーマット: 図書
• 出版事項: Elsevier, 2022-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...