A5055184042- Lysosomal Storage Disorders Research
- Escherichia coli research studies
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- Trypanosoma species research and implications
- Enterobacteriaceae and Cronobacter Research
- Bacteriophages and microbial interactions
- Viral gastroenteritis research and epidemiology
- Biochemical and Molecular Research
- Cytomegalovirus and herpesvirus research
- Peroxisome Proliferator-Activated Receptors
- Respiratory viral infections research
- Amino Acid Enzymes and Metabolism
- Probiotics and Fermented Foods
- Cellular transport and secretion
- Gut microbiota and health
- Neonatal Health and Biochemistry
- Clostridium difficile and Clostridium perfringens research
- Glycosylation and Glycoproteins Research
- Folate and B Vitamins Research
- Pneumocystis jirovecii pneumonia detection and treatment
Center for Research and Advanced Studies of the National Polytechnic Institute
2019-2023
Instituto Politécnico Nacional
2023
Hospital de Niños de la Santísima Trinidad
2019-2022
Universidad Nacional de Córdoba
2015-2021
The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. present study is the first to thoroughly assess clinical profiles UCD patients examined at a single reference center Argentina.Forty-nine cases were collected. About half (26/49, 53%) manifested neonatally with classical presentation had high mortality (25/26, 96%). Ornithine transcarbamylase deficiency (OTCD) was most common (26 patients). Argininosuccinate synthetase...
Typical enteroaggregative Escherichia coli (tEAEC) is a diarrheagenic E. pathotype associated with pediatric and traveler's diarrhea. Even without diarrhea, EAEC infections in children also lead to increased gut inflammation growth shortfalls. strain's defining phenotype the aggregative adherence pattern on epithelial cells attributable fimbriae (AAF). only causes diarrhea humans; therefore, not much known of exact intestinal region infection damage or its interactions enterocytes vivo situ....
The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive inborn error of the urea cycle caused by mutations in SLC25A15 gene. Besides well-known metabolic complications, patients often present intercurrent infections associated with acute hyperammonemia and decompensation. However, it currently unknown whether are immunological alterations besides known imbalances. Herein, we describe case 3-years-old girl affected HHH two novel gene immune...
Introduction: Diarrhoeal illness is the second cause of morbidity/mortality among children from less-developed regions worldwide. Nonetheless, there scarce information regarding their gut microbiome. Aim: Microbiome characterization, with an emphasis on virome, children’s stools diarrhoea, by a commercial microbiome array. Methodology: Nucleic acids extraction, optimised for viral identification, stool samples 20 Mexican diarrhoea (10 < 2 and 10 ≥ 2-years-old), collected 16 years ago kept...
Escherichia albertii is an emerging human enteropathogen. We report the draft genome sequence of E. strain Mex-12/320a, isolated from infant with diarrhea. The presence pathogenic island O122/IE6 and nleA gene, previously found in diarrheagenic enteropathogenic coli strains, suggests that may cause acute
Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are currently recognized with disease-causing DNA variants: PPT1/CLN1, TPP1/CLN2, CLN3, DNAJC5/CLN4, CLN5, CLN6, MFSD8/CLN7, CLN8, CTSD/CN10, GRN/CLN11, ATP13A2/CLN12, CTSF/CLN13, KCTD7/CLN14, TBCK/CLN15. In frame Cordoba cohort, we studied N=51 cases. The aim this paper is...
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) (HRH). The objective this study was to characterize cohort Argentine patients HPRT diagnosed in single center. Results: Twenty nine were studied, including 12 LND, 15 HND 2 HRH. average onset age 0.64 years LND motor delay as the main manifestation, 8.84 2.5 HRH;...