Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C

• Main Authors: Marcella Borges (Author), Luissa Hikari Hayashi Araujo (Author), Bruno Lima (Author), Laura Vagnini (Author), Alberto Salles (Author), Guerino Pelicer Neto-Magalhães (Author), João Paulo Cristofolo (Author), João Paulo Freitas (Author), Pedro Ivo Aranas (Author), Jacqueline Harouche Rodrigues Fonseca (Author), Fernanda Seabra Souza Timm (Author), Charles Marques Lourenço (Author)
• Format: Book
• Published: Sociedade Brasileira de Pediatria, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder involved in cholesterol ester metabolism. It is a poorly understood genetic cause of cirrhosis, dyslipidemia and premature atherosclerotic disease in children and adults. As the manifestations of LAL-D may resembl...