Results 41 to 50 of about 2,804 (189)

Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient

Egyptian Journal of Medical Human Genetics, 2022
Background Intellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than 80% by language delay, intellectual disability, gross motor development delay, broad nasal bridge ...
Hugo H. Abarca-Barriga, Felix Chavesta Velásquez, Renzo Punil Luciano   +2 more
doaj   +1 more source

Guiding signs in metabolic disease diagnosis [PDF]

, 2013
Los errores innatos del metabolismo son un grupo de enfermedades genéticas con sintomatología muy inespecífica y por tanto difícil diagnóstico si no existe una sospecha clínica elevada.
Cabeza Martín, B., Hernangómez Vázquez, S., Jiménez Ortega, A. I., Martínez de Azagra, A., Martínez Zazo, A. B., Pedrón, Consuelo, Sirvent Cerdá, S. I.   +6 more
core   +2 more sources

Causas de hospitalización de pacientes con errores innatos del metabolismo intermediario: análisis de una serie de casos de un hospital de tercer nivel de atención

Acta Pediátrica de México, 2020
ANTECEDENTES: Los errores innatos del metabolismo son causantes de una importante morbilidad y mortalidad que contribuyen a la carga hospitalaria pediatrica.
Leticia Belmont-Martínez, Isabel Ibarra-González, Marcela Vela-Amieva, Sara Guillén-López, L. López-Mejía, Ingrid Rebeca Castillo-Razo, Nuria Francisco-Revilla-Estívil, R. Cervantes-Bustamante, F. Zarate-Mondragon   +8 more
semanticscholar   +1 more source

Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns

Journal of Inborn Errors of Metabolism and Screening, 2014
Inborn errors of intermediary metabolism (IEiM) are complex diseases with high clinical heterogeneity, and some patients who have severe enzyme deficiencies or are subjected to stress (catabolism/infections) actually decompensate in the neonatal period ...
Ibarra-González Isabel MSc, Fernández-Lainez Cynthia BSc, Reyes-González Diana MD, Belmont-Martínez Leticia MD, Guillén-López Sara MSc, Monroy-Santoyo Susana MD, Vela-Amieva Marcela MD   +6 more
doaj   +1 more source

Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico

Annals of Hepatology, 2014
Introduction. Hepatorenal tyrosinemia (HT1) is a treatable, inherited, metabolic disease characterized by progressive liver failure with pronounced coagulopathy.
Cynthia Fernández-Lainez, Isabel Ibarra-González, Leticia Belmont-Martínez, Susana Monroy-Santoyo, Sara Guillén-López, Marcela Vela-Amieva   +5 more
doaj   +1 more source

Programa experto para el diagnóstico de errores innatos del metabolismo [PDF]

Revista de Ingeniería, 1995
Resumen del trabajo presentado en el Segundo Congreso latinoamericano de genetica realizado el 25 de septiembre en Puerto Vallarta, Mexico.
Marcela Hernández H., Luis Alejandro Barrera   +1 more
openaire   +1 more source

Clinical management of homocystinuria; case report and review of the literature [PDF]

, 2012
La homocistinuria es un error congénito del metabolismo de la metionina que conduce al acúmulo de metionina y de su principal metabolito, homocisteína, en plasma, orina y tejidos.
Díaz Guardiola, Patricia, Díaz Gómez, Joaquina, Fernández-Martínez, Alberto, Gómez-Candela, Carmen, Martínez Sancho, E., Olivar Roldán, Juana   +5 more
core   +2 more sources

Plackett‐Burman Design for rGILCC1 Laccase Activity Enhancement in Pichia pastoris: Concentrated Enzyme Kinetic Characterization

Enzyme Research, Volume 2017, Issue 1, 2017., 2017
Laccases are multicopper oxidases that catalyze aromatic and nonaromatic compounds with concomitant reduction of molecular oxygen to water. They are of great interest due to their potential biotechnological applications. In this work we statistically improved culture media for recombinant GILCC1 (rGILCC1) laccase production at low scale from Ganoderma ...
Edwin D. Morales-Álvarez, Claudia M. Rivera-Hoyos, Ángela M. Cardozo-Bernal, Raúl A. Poutou-Piñales, Aura M. Pedroza-Rodríguez, Dennis J. Díaz-Rincón, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Claudia L. Cuervo-Patiño, Hartmut Kuhn   +9 more
wiley   +1 more source

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

Orphanet Journal of Rare Diseases, 2021
Background Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack of enough knowledge on its natural history ...
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Leticia Belmont-Martínez, Carlos López-Candiani, Isabel Ibarra-González   +5 more
doaj   +1 more source

Factores de riesgo en las enfermedades genéticas

Acta Médica Peruana, 2018
Existen más de 10 000 enfermedades genéticas descritas en el mundo y afectan alrededor del 7% de la población mundial, causando alta morbimortalidad y costos para los sistemas de salud pública.
Hugo H. Abarca Barriga, Miguel Chávez Pastor, Milana Trubnykova, Jorge E. La Serna-Infantes, Julio A. Poterico   +4 more
doaj   +1 more source