Results 1 to 10 of about 400,583 (314)

Fórmulas metabólicas disponibles en México para pacientes con fenilcetonuria

Boletín Médico del Hospital Infantil de México, 2021
La fenilcetonuria y otras hiperfenilalaninemias son enfermedades genéticas cuya detección actualmente es obligatoria en México, tanto en el sector público como en el privado.
Lizbeth López-Mejía, Sara Guillén-López, Marcela Vela-Amieva   +2 more
doaj   +1 more source

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Heliyon, 2020
Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport,
María Alejandra Puentes-Tellez, Paula Andrea Lerma-Barbosa, Rafael Guillermo Garzón-Jaramillo, Diego A. Suarez, Angela J. Espejo-Mojica, Johana M. Guevara, Olga Yaneth Echeverri, Daniela Solano-Galarza, Alfredo Uribe-Ardila, Carlos J. Alméciga-Díaz   +9 more
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Actualización sobre la lactancia materna en los recién nacidos con errores innatos del metabolismo intermediario

Boletín Médico del Hospital Infantil de México, 2022
Los errores innatos del metabolismo intermediario (EIMi) son un grupo de enfermedades monogénicas que afectan alguna vía del metabolismo de las proteínas, los hidratos de carbono o los lípidos; cuando no son tratados a tiempo, se asocian con una elevada ...
Lizbeth López-Mejía, Sara Guillén-López, Marcela Vela-Amieva, Rosa I. Carrillo-Nieto   +3 more
doaj   +1 more source

Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú

Acta Médica Peruana, 2020
Objetivo: determinar las variantes en el número de copias y regiones de homocigosidad mediante el análisis cromosómico por micromatrices, en niños con diagnóstico de trastorno del neurodesarrollo: retraso del desarrollo psicomotor (RDPM), discapacidad ...
Hugo H. Abarca Barriga, Flor de Milagros Vásquez Sotomayor, Milana Trubnykova, Felix Chavesta Velasquez, Miguel A. Chavez Pastor, Bertha E. Gallardo Jugo, Julio Poterico Rojas, Nathaly Caballero Bedón, Jorge La Serna Infantes, Tania Vasquez Loarte   +9 more
doaj   +1 more source

A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism

International Journal of Neonatal Screening, 2023
Advances in an early diagnosis by expanded newborn screening (NBS) have been achieved mainly in developed countries, while populations of middle- and low-income countries have poor access, leading to disparities.
Isabel Ibarra-González, Cynthia Fernández-Lainez, Marcela Vela-Amieva, Sara Guillén-López, Leticia Belmont-Martínez, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Nidia Alejandra Guillén-Zaragoza   +7 more
doaj   +1 more source

Metabolic impact of infant formulas in young infants. An outlook from the urine metabolome

Heliyon, 2022
Introduction: Although breast milk is the ideal food source for newborns during the first six months of life, a high percentage of children receive infant formulas.
Angie Marcela Calvo Barbosa, Stefany Casallas Cortes, Ninna Pulido, Martha Yaneth Parra, Alexander Rodríguez-López, Johana Guevara-Morales, Olga Yaneth Echeverri-Peña   +6 more
doaj   +1 more source

Implementation of a method to quantify white blood cell cystine as a diagnostic support for cystinosis

Nefrología (English Edition), 2020
Background and aims: Cystinosis is an inborn error of metabolism, clinically characterised by severe renal involvement and development of corneal cystine deposits, especially in the adult form of the disease.
Johana Maria Guevara-Morales, Olga Yaneth Echeverri-Peña   +1 more
doaj   +1 more source

Implementación de un método para la cuantificación de cistina intraleucocitaria como apoyo diagnóstico para la cistinosis

Nefrología, 2020
Resumen: Antecedentes y objetivos: La cistinosis es un error innato del metabolismo cuyas características clínicas incluyen compromiso renal severo y formación de cristales de cistina en la córnea, especialmente en la presentación adulta de la ...
Johana Maria Guevara Morales, Olga Yaneth Echeverri Peña   +1 more
doaj   +1 more source

Erratum to “Prevalence of Haematoloechus pulcher metacercariae (Digenea: Plagiorchioidea) in the crayfish Cambarellus montezumae in Salazar Lagoon, Estado de México” [Rev. Mex. Biodivers. 86 (2015) 730–736]

Revista Mexicana de Biodiversidad, 2016
In the article ‘Prevalence of Haematoloechus pulcher metacercariae (Digenea: Plagiorchioidea) in the crayfish Cambarellus montezumae in Salazar Lagoon, Estado de México’ published with Revista Mexicana de Biodiversidad 86 (2015) 730–736, there was an ...
Fe de errores/ Erratum Fe de errores/ Erratum
doaj   +1 more source

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

Molecular Genetics and Metabolism Reports, 2017
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López, L. Ceberio-Hualde, J.S. García-Morillo, J.M. Grau-Junyent, A. Hermida Ameijeiras, M. López-Rodríguez, J.C. Milisenda, M. Moltó Abad, M. Morales-Conejo, J.J. Nava Mateos   +9 more
doaj   +1 more source