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

Patient: Male, 14 Final Diagnosis: Lysosomal acid lipase deficiency (LAL-D) Symptoms: Dyslipidemia • isolated hepatomegaly Medication: — Clinical Procedure: Genetic sequencing Specialty: Gastroenterology and Hepatology OBJECTIVE: Rare disease BACKGROUND: Lysosomal acid lipase deficiency is a rare ge...

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Detalles Bibliográficos
Autores principales: Botero, Verónica, Garcia, Victor H., Gomez-Duarte, Catalina, Aristizabal, Ana M., Arrunategui, Ana M., Echeverri, Gabriel J., Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6024709/
https://www.ncbi.nlm.nih.gov/pubmed/29884776
http://dx.doi.org/10.12659/AJCR.908808