SISTEMA INTEGRAL DE INFORMACIÓN ACADÉMICA - PÚBLICO

Vela-Amieva M.
(Autor externo)

Obras con ISBN:0
Documentos en revistas:38
Colaboraciones en Tesis:0
Patentes:0
Obras con ISBN:No hay obras de este autor.
Documentos en revistas:
1.- A predictive model for neoadjuvant therapy response in breast cancer (2025)
 
2.- Hypogammaglobulinemia Class G Is Present in Compensated and Decompensated Patients with Propionate Defects, Independent of Their Nutritional Status (2024)
 
3.- Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect (2024)
 
4.- An early prediction model for gestational diabetes mellitus based on metabolomic biomarkers (2023)
 
5.- In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening (2023)
 
6.- Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center (2022)
 
7.- Metabolic Reprogramming in SARS-CoV-2 Infection Impacts the Outcome of COVID-19 Patients (2022)
 
8.- Actualización para el tratamiento de la hiperamonemia aguda en pacientes con errores innatos del metabolismo (2022)
 
9.- Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency (2022)
 
10.- A Longitudinal1 H NMR-Based Metabolic Profile Analysis of Urine from Hospitalized Premature Newborns Receiving Enteral and Parenteral Nutrition (2022)
 
11.- Homocistinuria: características clínicas de una cohorte y pautas de atención (2022)
 
12.- Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico (2021)
 
13.- Atención de pacientes con errores innatos del metabolismo durante la pandemia de COVID-19 en México: Importancia de la telemedicina (2021)
 
14.- Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders (2021)
 
15.- Serum metabolite profile associated with sex-dependent visceral adiposity index and low bone mineral density in a mexican population (2021)
 
16.- Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening (2021)
 
17.- An updated PAH mutational spectrum of phenylketonuria in mexican patients attending a single center: Biochemical, clinical-genotyping correlations (2021)
 
18.- Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7 (2020)
 
19.- Environmental and intrinsic factors shaping gut microbiota composition and diversity and its relation to metabolic health in children and early adolescents: A population-based study (2020)
 
20.- Simultaneous evaluation of metabolomic and inflammatory biomarkers in children with different body mass index (BMI) and waist-to-height ratio (WHtR) (2020)
 
21.- Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia (2020)
 
22.- A multi-omic analysis for low bone mineral density in postmenopausal women suggests a relationship between diet, metabolites, and microbiota (2020)
 
23.- Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant (2019)
 
24.- Composition of gut microbiota in obese and normal-weight Mexican school-age children and its association with metabolic traits (2018)
 
25.- In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing (2018)
 
26.- Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico (2018)
 
27.- Hepatorenal Tyrosinemia in Mexico: A Call to Action (2017)
 
28.- Immunoglobulin Concentrations in Plasma and Saliva During the Neonatal Period (2016)
 
29.- Resonancia magnética nuclear de encéfalo en pacientes con fenilcetonuria diagnosticada tardíamente (2015)
 
30.- Gastrostomy positively affects the nutritional status and decreases days of hospitalization in patients with inborn errors of metabolism [La gastrostomía afecta positivamente al estado nutricional y disminuye los días de hospitalización e (2015)
 
31.- Characterization of inborn errors of intermediary metabolism in mexican patients (2014)
 
32.- CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis (2013)
 
33.- Phenotype?genotype discrepancy due to a 5.5-kb deletion in the GALT gene (2012)
 
34.- Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: Identification of the recurrent p.Arg31His mutation (2012)
 
35.- Increased mortality and disability in Mexican children with maple syrup urine disease (MSUD) [Elevada mortalidad y discapacidad en niños mexicanos con enfermedad de orina con olor a jarabe de arce (EOJA)] (2007)
 
36.- Short report: Neonatal screening pilot study of Toxoplasma gondii congenital infection in Mexico (2005)
 
37.- Epidemiology of congenital hypothyroidism in Mexico [Epidemiología del hipotiroidismo congénito en México] (2004)
 
38.- Hyperthyrotropinemia in Mexican newborns [Hipertirotropinemia en recién nacidos Mexicanos] (2003)
 
Colaboraciones en Tesis:No hay tesis de este autor.
Patentes:No hay patentes de este autor.