Results 101 to 110 of about 293 (143)
[Etiology of epilepsy in Mexico: results from the national multi-centre register]. [PDF]
Reséndiz-Aparicio JC +6 more
europepmc +1 more source
The Role of Microbial Exopolysaccharides in Preventing and Treating Cardiovascular Diseases. [PDF]
Sanhueza-Carrera EA +8 more
europepmc +1 more source
[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients]. [PDF]
Ramón-Gómez JL +4 more
europepmc +1 more source
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management. [PDF]
Vela-Amieva M +14 more
europepmc +1 more source
[Medical genetics services in VenezuelaServiços de genética médica na Venezuela].
Torre-Hernandez CA +4 more
europepmc +1 more source
ENFERMEDADES HUÉRFANAS EN COLOMBIA: UNA PANORÁMICA A TRAVÉS DE LOS ERRORES INNATOS DEL METABOLISMO
openaire +1 more source
Caracterización de errores innatos del metabolismo intermediario en pacientes mexicanos
Introduction Inborn errors of intermediary metabolism (IEiM) are a group of heterogeneous genetic diseases that are diagnostically challenging and cause significant morbidity and mortality. The aim of this study is to perform a descriptive analysis of the number, type, and clinical features, in a series of cases with IEiM identified through selective ...
Marcela Vela-Amieva
exaly +2 more sources
ResumenIntroducciónLos errores innatos del metabolismo son alteraciones en uno o varios pasos de alguna vía metabólica que se asocian a complicaciones multisistémicas y tienen alto impacto en la calidad de vida de los pacientes. El reemplazo enzimático ha prolongado la vida, por lo que se hace importante reconocer las complicaciones anestésicas más ...
Marta Inés Berrío Valencia
exaly +3 more sources

