Publications by authors named "M L Couce"

Background And Aims: Human milk (HM) is the earliest form of extrauterine communication between mother and infant, that could promote early programming. The aim of this study is to look for specific biological processes, particularly those undergoing prematurity, modulated by proteins and miRNAs of HM that could be implicated in growth and development.

Methods: This is a prospective, observational, single center study in which we collected 48 human milk (HM) samples at two distinct stages of lactation: colostrum (first 72-96 h) and mature milk (at week 4 post-delivery) from mothers of very preterm newborns (<32 weeks) and term (≥37 and < 42 weeks).

View Article and Find Full Text PDF

Inborn errors of metabolism (IEM) are a large group of single-gene disorders resulting from enzyme defects in biochemical and metabolic pathways [...

View Article and Find Full Text PDF

Biotinidase deficiency is a rare inherited disorder characterized by biotin metabolism issues, leading to neurological and cutaneous symptoms that can be alleviated through biotin administration. Three-dimensional (3D) printing (3DP) offers potential for personalized medicine production for rare diseases, due to its flexibility in designing dosage forms and controlling release profiles. For such point-of-care applications, rigorous quality control (QC) measures are essential to ensure precise dosing, optimal performance, and product safety, especially for low personalized doses in preclinical and clinical studies.

View Article and Find Full Text PDF
Article Synopsis
  • The study presents a rare case of two 9-year-old twins with galactose mutarotase (GALM) deficiency who have remained asymptomatic, even after gradually reintroducing galactose into their diet after a period of strict dietary restriction.
  • Initial detection was through newborn screening, leading to biochemical normalization after dietary adjustments; the genetic analysis revealed a complete deletion of a specific exon in the GALM gene.
  • The findings suggest that dietary liberalization may not negatively affect health in GALM deficiency, prompting further exploration into dietary management for this condition.
View Article and Find Full Text PDF