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
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...
Main Authors: | Marcella Borges, Luissa Hikari Hayashi Araujo, Bruno Lima, Laura Vagnini, Alberto Salles, Guerino Pelicer Neto-Magalhães, João Paulo Cristofolo, João Paulo Freitas, Pedro Ivo Aranas, Jacqueline Harouche Rodrigues Fonseca, Fernanda Seabra Souza Timm, Charles Marques Lourenço |
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Format: | Article |
Language: | English |
Published: |
Sociedade Brasileira de Pediatria
2023-09-01
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Series: | Residência Pediátrica |
Subjects: | |
Online Access: | https://residenciapediatrica.com.br/detalhes/1413/deficiencia%20de%20lipase%20acida%20lisossomica%20-lal--%20analise%20enzimatica%20em%20papel-filtro%20como%20ferramenta%20diagnostica%20em%20paciente%20com%20diagnostico%20previo%20de%20doenca%20de%20niemann-pick%20tipo%20c |
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