Lysosomal Acid Lipase Deficiency a Rare Pathology: The First Pediatric Patient Reported in Colombia

摘要

>Patient: Male, 14>Final Diagnosis: Lysosomal acid lipase deficiency (LAL-D)>Symptoms: Dyslipidemia • isolated hepatomegaly>Medication: —>Clinical Procedure: Genetic sequencing>Specialty: Gastroenterology and HepatologyObjective:>Rare disease