ÉTICA DE LA EQUIDAD Y JUSTICIA EN EL ACCESO AL DIAGNÓSTICO, TRATAMIENTO Y REHABILITACIÓN DE LOS PACIENTES CON ENFERMEDADES RARAS

Autor: Fernando Novoa S., Dr., Juan FRANCISCO Cabello A., Dr.

Publikováno v: Revista Médica Clínica Las Condes, Vol 26, Iss 4, Pp 527-532 (2015)

Las enfermedades raras se definen por su reducida frecuencia en la población, lo que supone numerosas consecuencias adversas, tanto a nivel médico como social. Estas patologías, al ser poco conocidas, tienen un diagnóstico tardío y no cuentan co

Externí odkaz: https://doaj.org/article/da8d0a32febf4b01bccf3578697923d4

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU

Autor: Alicia de la Parra, María Ignacia García, Valerie Hamilton, Carolina Arias, Juan Francisco Cabello, Verónica Cornejo

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 90-94 (2017)

There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences exist on target blood phenylalanine (Phe) concentrations for children with PKU in different countries and treatment centers. For the first ti

Externí odkaz: https://doaj.org/article/b0422d5ea7704656a29d3fa2ad956316

Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet

Autor: Cornejo, Eugenia Rojas-Agurto, María Jesús Leal-Witt, Carolina Arias, Juan Francisco Cabello, Daniel Bunout, Verónica

Publikováno v: Nutrients; Volume 15; Issue 13; Pages: 2939

There are concerns about muscle and bone health in patients with Phenylketonuria (PKU). Our aim was to compare muscle mass, function, and bone health among young adults with PKU who maintained or suspended dietary treatment. Methods: Three groups wer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::60d6942d0f79d6f1b629b6cca16f378b

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

Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup Urine Disease

Autor: V. Soto, P. Guerrero, Verónica Cornejo, A. Faundez, Alf Valiente, Juan Francisco Cabello, M.J. Leal-Witt, Karen Fuenzalida

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210005, Published: 09 JUN 2021
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (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

Elevation of branched-chain amino acids (BCAAs) in biological fluids indicates a deficiency in the branched-chain ketoacid dehydrogenase complex, which causes maple syrup urine disease (MSUD). Detection of increased levels of alloisoleucine confirms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4933f27386314447fe6a12443bab93d7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100310&lng=en&tlng=en