Human Mutation, Volume 2025, Issue 1, 2025.Citrin deficiency (CD) is an autosomal recessive disorder caused by the absence or dysfunction of the mitochondrial transporter citrin, resulting from mutations in SLC25A13. The disease presents with age‐dependent clinical manifestations: neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia by CD (FTTDCD), and an ...
Jun Kido +8 more
wiley +1 more source
An overview of different methods to establish a murine premature ovarian failure model
Animal Models and Experimental Medicine, Volume 7, Issue 6, Page 835-852, December 2024.Ten different methods to induce murine POF models: (1) POF model induced by chemotherapy drugs, (2) radiotherapy‐induced POF model, (3) genetically induced POF model, (4) POF model induced by D‐galactose, (5) natural ovarian aging (NOA)‐induced POF model (6) physiological POF model with consecutive superovulation, (7) oophorectomy POF model, (8) POF ...
Negar Pouladvand +4 more
wiley +1 more source
Cobertura del tamizaje metabólico neonatal para la prevención de discapacidad en un centro de salud de Guayaquil, 2018-2020 [PDF]
, 2021 La presente investigación mantuvo como objetivo general determinar la cobertura del tamizaje metabólico neonatal para la prevención de discapacidad en un centro de salud de Guayaquil, 2018-2020.
Rayo Caicedo, Karina Erminia
core
Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review. [PDF]
Int J Mol Sci, 2023 Tummolo A +7 more
europepmc +1 more source
Secondary Reporting of G6PD Deficiency on Newborn Screening. [PDF]
Int J Neonatal Screen, 2023 Hoang SC +7 more
europepmc +1 more source
Adultos jovens com deficiência de metilentetrahidrofolato reductasa e aciduria etilenmalónica. Reporte de dois casos e revisão de tema [PDF]
, 2013 The impact of genomics in clinical medicine has been significant in recent years. Up to 2012, more than 3,000 genetic conditions have been implicated in clinical medicine.
Aristizábal, Beatriz Helena +1 more
core +1 more source
Doenças raras: o que o pediatra necessita saber [PDF]
Rare disease or an orphan disease is a disease that affects a small percentage of the population. Most of these diseases are present throughout the patients life, even if the symptoms do not appear immediately.
Lilian Monteiro Pereira Palma +3 more
core +1 more source
Cribado neonatal de la galactosemia clásica. Revisión sistemática [PDF]
, 2014 En cubierta aparecen logos del Ministerio de Sanidad, Servicios Sociales e Igualdad, y de la Red Española de Agencias de Evaluación de Tecnologías y Prestaciones del ...
Atienza Merino, Gerardo +2 more
core
Evaluation and perspective of 20 years of neonatal screening in Galicia: Program results [PDF]
, 2020 El Programa Gallego para la Detección Precoz de Enfermedades Endocrinas y Metabólicas se inició en 1978 y fue pionero en España en el cribado neonatal ampliado con la incorporación de la espectrometría de masas en julio de 2000. Como objetivo primario se
Alonso Fernández, José Ramón +9 more
core
Diagnóstico precoz de los errores congénitos del metabolismo [PDF]
, 2011 Los avances científicos recientes han permitido identificar un número importante de enfermedades consideradas como raras, aquellas que tienen una baja prevalencia o aparecen ocasionalmente en la población –en Europa, menos de 1 caso cada 2.000 ...
Alonso Fernández, José Ramón +8 more
core +7 more sources