Results 21 to 30 of about 2,279 (186)

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

Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

Journal of Inherited Metabolic Disease, Volume 44, Issue 3, Page 677-692, May 2021., 2021
Abstract Cystathionine β‐synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications.
Viktor Kožich, Jitka Sokolová, Andrew A. M. Morris, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Jakub Krijt, Carlo Dionisi‐Vici, Matthias R. Baumgartner, Henk J. Blom, Martina Huemer, E‐HOD consortium, Luis Aldámiz‐Echevarría, Rodrigo Rezende Arantes, Francisco Arrieta, Javier Blasco‐Alonso, Martijn Brouwers, Michaela Brunner‐Krainz, María Bueno, Rosa Burgos Peláez, Aline Cano, María‐Luz Couce, Ellen Crushell, Can Ficicioglu, Patrick Forny, María Concepción García Jiménez, Ana Gaspar, Domingo González‐Lamuño Leguina, Kimberly A. Chapman, Yin‐Hsiu Chien, Mirian C.H. Janssen, Pavel Ješina, Robin Lachmann, Christian Lavigne, Allan M. Lund, Natalia Lüsebrink, Francois Maillot, Ana Maria Martins, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Ahmad Monavari, Sónia Moreira, Carolina Araujo Moreno, Diana Muačević‐Katanec, Helen Mundy, Elaine Murphy, Giorgia Olivieri, Stéphanie Paquay, Consuelo Pedrón‐Giner, Luís Peña Quintana, Gloria L. Porras‐Hurtado, Pilar Quijada Fraile, Isabelle Redonnet‐Vernhet, Alexander J.M. Rennings, Mònica Ruiz Pons, Saikat Santra, Aude Servais, Maria Cristina Schiaffino, Manuel Schiff, Bernd C. Schwahn, Ida V.D. Schwartz, Leighann J. Sremba, Collette Stainforth, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Allyson Terry, Christel Tran, Isidro Vitoria Miñana, Inmaculada Vives‐Piñera, Monique Williams, Jiří Zeman, Matthias Zielonka   +72 more
wiley   +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
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

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

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

Errores innatos del metabolismo : experiencia de trece años de estudio en Cartagena de Indias, Colombia.

Revista Ciencias Biomédicas, 2021
Introducción: los Errores Innatos del Metabolismo son trastornos causados por mutaciones, y aunque son enfermedades raras, su diagnóstico oportuno puede mejorar la calidad de vida de los pacientes.
Ciro Alvear, Miriam Barboza Urbanes, Carlos Moneriz   +2 more
doaj   +1 more source

[Detection of inborn errors of metabolism: guidelines in Mexico and other countries]. [PDF]

Rev Med Inst Mex Seguro Soc
Resumen Los errores innatos del metabolismo (EIM), también conocidos como trastornos metabólicos hereditarios, son poco comunes, pero se asocian con importante morbilidad y mortalidad. La incidencia es variable en todas las regiones, a nivel mundial oscila de 1 entre 569 a 2500 recién nacidos vivos (RNV).
Guerrero-Barrios S, Chiquillo-Domínguez M, Ayón-Aguilar J, Rodriguez-Alfaro SE, Méndez-Martínez S, García-Flores MA.   +5 more
europepmc   +3 more sources

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

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