Cargando…

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...

Descripción completa

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:	Articles
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

Ejemplares similares

Aspergillus hepatic artery thrombosis in liver transplantation
por: Echeverri, Gabriel J., et al.
Publicado: (2018)

Lipases in lysosomes, what for?
por: Czaja, Mark J., et al.
Publicado: (2009)

Lysosomal acid lipase deficiency in pediatric patients: a scoping review
por: Witeck, Camila da Rosa, et al.
Publicado: (2021)

Clinical Features of Lysosomal Acid Lipase Deficiency
por: Burton, Barbara K., et al.
Publicado: (2015)

Hepatosteatosis from Lysosomal Acid Lipase Deficiency
por: Zandanell, Stephan, et al.
Publicado: (2018)

Lysosomal Acid Lipase Deficiency: Therapeutic Options
por: Pastores, Gregory M, et al.
Publicado: (2020)

Lysosomal acid lipase deficiency – early diagnosis is the key
por: Strebinger, Georg, et al.
Publicado: (2019)

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency
por: Pritchard, Amanda Barone, et al.
Publicado: (2020)

Progressive macrophage accumulation in lysosomal acid lipase deficiency
por: Lipiński, Patryk, et al.
Publicado: (2020)

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
por: Curiati, Marco Antonio, et al.
Publicado: (2018)

Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study
por: Mashima, Ryuichi, et al.
Publicado: (2022)

Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia
por: Sheth, Sohum, et al.
Publicado: (2023)

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
por: Jones, Simon A., et al.
Publicado: (2016)

IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
por: Tommaso, Adriana Maria Alves De, et al.
Publicado: (2017)

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program
por: Sustar, Ursa, et al.
Publicado: (2022)

Lysosomal acid lipase in cancer
por: Yan, Cong, et al.
Publicado: (2015)

Hepatoblastoma: Transplant Versus Resection Experience in a Latin American Transplant Center
por: Caicedo, Luis A., et al.
Publicado: (2017)

The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children
por: Saad, Michelle, et al.
Publicado: (2021)

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia
por: Pachajoa, Harry, et al.
Publicado: (2014)

First Case Report of Prader–Willi-Like Syndrome in Colombia
por: Candelo, Estephania, et al.
Publicado: (2018)

Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa
por: Su, Kim, et al.
Publicado: (2016)

Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots
por: Hong, Xinying, et al.
Publicado: (2022)

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia
por: Puentes-Tellez, María Alejandra, et al.
Publicado: (2020)

Skin manifestations in pediatric patients with primary immunodeficiency diseases (PIDs) in a tertiary care hospital in Colombia()
por: López-Quintero, William, et al.
Publicado: (2021)

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report
por: Ruiz-Botero, Felipe, et al.
Publicado: (2016)

Seguimiento inmunológico después de trasplante renal: una propuesta para la práctica clínica en Colombia
por: Ortiz, Melissa Andrea, et al.
Publicado: (2020)

A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
por: Kim, Kwang Yeon, et al.
Publicado: (2017)

CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) – A case report
por: Foladi, Naqibullah, et al.
Publicado: (2021)

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
por: Cohen, Jennifer L., et al.
Publicado: (2019)

Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review
por: Bashir, Aamir, et al.
Publicado: (2021)

Increase in direct costs for health systems due to lupus nephritis: the case of Colombia
por: Prada, Sergio I, et al.
Publicado: (2022)

A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report
por: Pachajoa, Harry, et al.
Publicado: (2014)

A database to analyze cycling routes in Medellin, Colombia
por: Ospina-Zapata, Juan P., et al.
Publicado: (2020)

Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency
por: del Angel, Guillermo, et al.
Publicado: (2019)

15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report
por: Cunha-Silva, Marlone, et al.
Publicado: (2022)

Lysosomal acid lipase: at the crossroads of normal and atherogenic cholesterol metabolism
por: Dubland, Joshua A., et al.
Publicado: (2015)

A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL‐D) and the molecular characterization of 18 LAL‐D patients from Russia
por: Mayanskiy, Nikolay, et al.
Publicado: (2019)

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
por: Aristizábal, Erica, et al.
Publicado: (2021)

Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology
por: Navarro-Romero, Alba, et al.
Publicado: (2022)

Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory
por: Leal, Andrés Felipe, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_d1g96440ebjeufs8l4pdu78qr8