Zobrazeno 1 - 7 of 7 pro vyhledávání: '"María Florencia Salazar"'
1
Akademický článek
Analysis of dietary fats intake and lipid profile in Chilean patients with glucose transport type 1 deficiency syndrome: similarities and differences with the reviewed literature
Autor: María Florencia Salazar, María Jesús Leal-Witt, Valentina Parga, Carolina Arias, Verónica Cornejo
Publikováno v: Frontiers in Nutrition, Vol 11 (2024)
IntroductionGlucose transporter type 1 deficiency syndrome (GLUT1-DS) is a neurological disorder caused by mutations in the SLC2A1 gene. The main treatment is ketogenic diet therapy (KDT), which changes the brain’s energy substrate from glucose to
Externí odkaz: https://doaj.org/article/885abf0ea32841f89a23f630be524d98
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2
Akademický článek
Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile
Autor: Carolina Arias, Isabel Hidalgo, María Florencia Salazar, Juan Francisco Cabello, Felipe Peñaloza, Pilar Peredo, Alf Valiente, Karen Fuenzalid, Patricio Guerrero, Verónica Cornej
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Introduction: Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA). 90% of patients without early treatment present acute encephalopat
Externí odkaz: https://doaj.org/article/a5f1995017524462839dd562a3014eee
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3
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile
Autor: Felipe Peñaloza, Felipe Falcon, Juan Francisco Cabello, Alicia de la Parra, María Florencia Salazar, Diana Ruffato, Carolina Arias, Verónica Cornejo, Gabriela Castro, Víctor Faundes, María Fernanda Medina
Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187:373-380
Maple urine syrup disease (MSUD) is an autosomal recessive disorder characterized by deficient activity of the branched-chain alpha ketoacid dehydrogenase (BCKAD) enzymatic complex due to biallelic variants in the alpha (BCKDHA) or beta (BCKDHB) subu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b68cf2d3954bfb89dbf492ed4ba314
https://doi.org/10.1002/ajmg.c.31933
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5
Update on Dietary Compliance, Nutritional Status, and Neuropsychological Functioning in the Chilean Phenylketonuria cohort
Autor: Alf Valiente, María Florencia Salazar, Pilar Peredo, Carolina Arias, Juan Francisco Cabello, A. De la Parra, Felipe Peñaloza, Verónica Cornejo, Gabriela Castro, Valerie Hamilton, María Jesús Leal-Witt
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210003, Published: 11 JUN 2021
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Since 1992, Chile has had a Newborn Screening Program for Phenylketonuria (PKU), which currently has an incidence of 1:18,916 newborns. The objective of the current study was to describe the 2020 follow up of the Chilean PKU cohort. The variables ana
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f54960273649418948b5e3dfb6c717c
https://doi.org/10.1590/2326-4594-jiems-2021-0003
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6
Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile
Autor: Juan Francisco Cabello, Pilar Peredo, Patricio Guerrero, Felipe Peñaloza, Karen Fuenzalid, Verónica Cornej, Alf Valiente, María Florencia Salazar, Isabel Hidalgo, Carolina Arias
Publikováno v: Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e2021000, Published: 09 JUL 2021
Introduction: Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA). 90% of patients without early treatment present acute encephalopathic crisi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5d26785b72ecd3d6e4d17da520f9006
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100319
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7
NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers
Autor: Karen Fuenzalida, María Jesús Leal-Witt, Patricio Guerrero, Valerie Hamilton, María Florencia Salazar, Felipe Peñaloza, Carolina Arias, Verónica Cornejo
Publikováno v: Journal of Clinical Medicine, Vol 10, Iss 5832, p 5832 (2021)
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 10; Issue 24; Pages: 5832
Treatment and follow-up in Hereditary Tyrosinemia type 1 (HT-1) patients require comprehensive clinical and dietary management, which involves drug therapy with NTBC and the laboratory monitoring of parameters, including NTBC levels, succinylacetone
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c29cca011e0bbc6c63666f1456e8114
https://doi.org/10.3390/jcm10245832
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