Results 11 to 20 of about 293 (143)
Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report [PDF]
Frontiers in NutritionOrnithine transcarbamylase deficiency (OTCD) is the most common disorder of the urea cycle and is caused by a mutation of the OTC gene, located on chromosome X.
Álvaro Martín-Rivada +2 more
doaj +2 more sources
Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose–galactose transporter SLC5A1 [PDF]
Frontiers in PediatricsIntroductionCongenital glucose–galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea.
Lizbeth López-Mejía +8 more
doaj +2 more sources
Identification of intragenic variants in pediatric patients with intellectual disability in Peru [PDF]
BMC Medical GenomicsBackground Intellectual disability in Latin America can reach a frequency of 12% of the population, these may include nutritional deficiencies, exposure to toxic or infectious agents, and the lack of universal neonatal screening programs.
Hugo Hernán Abarca-Barriga +4 more
doaj +2 more sources
Dishormogénesis por errores innatos del Metabolismo
Revista Colombiana de Endocrinología, Diabetes y Metabolismo, 2018 Fragmento. El complicado mecanismo del paso de yodo inorgánico a través del tubo digestivo, su distribución extra e intracelular en el cuerpo y su excreción por los riñones.
Antonio Ucrós Cuéllar
doaj +2 more sources
Programa de detección de errores innatos del metabolismo, Minas de Matahambre 2008-2012
Revista de Ciencias Médicas de Pinar del Río, 2014 Introducción: los errores innatos del metabolismo son un grupo muy heterogéneo de enfermedades congénitas, determinadas por el bloqueo de un paso metabólico debido a la mutación de genes responsables del funcionamiento del mismo.
Yinet Oliva López +1 more
doaj +2 more sources
Iatreia, 2014 Los errores innatos del metabolismo (EIM) son más de 550 enfermedades en las que se presenta una deficiencia o ausencia de proteínas con actividad enzimática, transportadora, receptora o estructural.
Natalia Regina Mesa Herrera +2 more
doaj +4 more sources
FEBS Letters, Volume 597, Issue 9, Page 1290-1299, May 2023., 2023 Under physiological conditions, normal NLRP3 inflammasome activity in the cornea is accompanied by a clear, avascular surface. The amino acid substitution Thr257Ile in the E3 ubiquitin ligase Pellino‐2 leads to constitutive overactivation of the NLRP3 inflammasome.
Ileana Cristea +10 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 9, Issue 9, September 2021., 2021 This study characterizes DMD/DMB mutations in Peru. This population has been poorly studied at the genetic level. We want to obtain a landscape of mutations affecting patients and give them treatment options with therapies currently under use in other countries.
María Luisa Guevara‐Fujita +17 more
wiley +1 more source
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 +2 more
doaj +1 more source
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 +72 more
wiley +1 more source