Estudio de la demanda asistencial de las enfermedades metabólico hereditarias en un hospital de referencia regional [PDF]
, 2016 Introducción: Las enfermedades metabólico hereditarias (EMH) o errores innatos del metabolismo (EIM), son trastornos bioquímicos de origen genético, que según la función de la proteína afectada (enzima, transportador de membrana, receptor de membrana ...
García Jiménez, María Concepción +2 more
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Galactosemia, or Galactose Diabetes [PDF]
, 1954 George M. Guest, William Cochrane
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Communicating Genetic Concepts to Primary Care Providers: ACMG ACT Sheets as “Just in Time” Resource [PDF]
, 2021 Introduction: As genetics become increasingly incorporated into healthcare, the role of primary care providers (PCPs) in diagnosing and caring for people with genetic conditions will continue to grow.
Sprague, Trinity
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STUDIES ON CELL LINES DEVELOPED FROM THE TISSUES OF PATIENTS WITH GALACTOSEMIA [PDF]
, 1961 Robert S. Krooth, Arnold N. Weinberg
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Tamizaje metabólico neonatal diagnóstico temprano de los errores innatos del metabolismo. [PDF]
, 2020 El tamizaje neonatal metabólico es una prueba de laboratorio que debe realizarse a todos neonato para identificar a aquellos que están en riesgo de padecer desórdenes metabólicos serios que son tratables, pero que no son visibles al momento de su ...
Gudiel López, Luis Jairo André
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Formation of Galactose-1-Phosphate from Uridine Diphosphate Galactose in Erythrocytes from Patients with Galactosemia[31] [PDF]
, 1969 R Gitzelmann
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Aplicación de la secuenciación masiva de dna al diagnóstico de los defectos congénitos de glicosilación y de glucogenosis [PDF]
, 2017 Tesis Doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Ciencias, Departamento de Biología Molecular. Fecha de lectura: 09-03-2017Up to now, genetic analysis of human inherited diseases is based on gene-by-gene Sanger sequencing ...
Medrano Rodríguez, Celia
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Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Frontiers in GeneticsClassic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and ...
Bianca Panis +61 more
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