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Momento óptimo para la toma de muestra de sangre para el tamiz neonatal metabólico

Acta pediátrica de México, 2023-11, Vol.44 (6), p.491-498

Vela Amieva, Marcela

2023

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Fundamentos e indicadores de calidad del tamiz neonatal

Acta pediátrica de México, 2023-09, Vol.44 (5), p.408-414

Vela Amieva, Marcela

2023

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Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report

Neuropathology, 2017-12, Vol.37 (6), p.586-590

2017

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Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

Molecular genetics & genomic medicine, 2019-12, Vol.7 (12), p.e937-n/a

2019

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Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders

Journal of autism and developmental disorders, 2021-06, Vol.51 (6), p.2124-2131

2021

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Simultaneous evaluation of metabolomic and inflammatory biomarkers in children with different body mass index (BMI) and waist-to-height ratio (WHtR)

PloS one, 2020-08, Vol.15 (8), p.e0237917

2020

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Hypogammaglobulinemia Class G Is Present in Compensated and Decompensated Patients with Propionate Defects, Independent of Their Nutritional Status

Nutrients, 2024-06, Vol.16 (11), p.1775

2024

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A higher bacterial inward BCAA transport driven by Faecalibacterium prausnitzii is associated with lower serum levels of BCAA in early adolescents

Molecular medicine (Cambridge, Mass.), 2021-09, Vol.27 (1), p.108-108, Article 108

2021

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The BMI Z-Score and Protein Energy Ratio in Early- and Late-Diagnosed PKU Patients from a Single Reference Center in Mexico

Nutrients, 2023-02, Vol.15 (4), p.957

2023

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Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.103-103, Article 103

2021

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Conventional Phenylketonuria Treatment

Journal of inborn errors of metabolism and screening, 2016-12, Vol.4, p.232640981668573

2016

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An Amino Acid Signature Associated with Obesity Predicts 2-Year Risk of Hypertriglyceridemia in School-Age Children

Scientific reports, 2017-07, Vol.7 (1), p.5607-9, Article 5607

2017

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Fórmulas metabólicas disponibles en México para pacientes con fenilcetonuria

Boletín médico del Hospital Infantil de México (Spanish edition), 2021-11, Vol.78 (6)

2021

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Targeted Metabolomics Revealed a Sex-Dependent Signature for Metabolic Syndrome in the Mexican Population

Nutrients, 2022-09, Vol.14 (18), p.3678

2022

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An early prediction model for gestational diabetes mellitus based on metabolomic biomarkers

Diabetology and metabolic syndrome, 2023-06, Vol.15 (1), p.116-116, Article 116

2023

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Actualización sobre la lactancia materna en los recién nacidos con errores innatos del metabolismo intermediario

Boletín médico del Hospital Infantil de México, 2022-07, Vol.79 (3), p.141-151

2022

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P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program

Genetics in Medicine Open, 2024, Vol.2, p.100907, Article 100907

2024

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High Iodine Urinary Concentration Is Associated with High TSH Levels but Not with Nutrition Status in Schoolchildren of Northeastern Mexico

Nutrients, 2021-11, Vol.13 (11), p.3975

2021

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A Multi-Omic Analysis for Low Bone Mineral Density in Postmenopausal Women Suggests a Relationship between Diet, Metabolites, and Microbiota

Microorganisms (Basel), 2020-10, Vol.8 (11), p.1630

2020

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Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101026-101026, Article 101026

2024

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A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism

International journal of neonatal screening, 2023-10, Vol.9 (4), p.59

2023

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Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose-galactose transporter SLC5A1

Frontiers in pediatrics, 2024-02, Vol.12, p.1284671

2024

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Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1037-1049

2012

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In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening

Children (Basel), 2023-11, Vol.10 (12), p.1865

2023

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Serum Metabolite Profile Associated with Sex-Dependent Visceral Adiposity Index and Low Bone Mineral Density in a Mexican Population

Metabolites, 2021-09, Vol.11 (9), p.604

2021

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Momento óptimo para la toma de muestra de sangre para el tamiz neonatal metabólico

Fundamentos e indicadores de calidad del tamiz neonatal

Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders

Simultaneous evaluation of metabolomic and inflammatory biomarkers in children with different body mass index (BMI) and waist-to-height ratio (WHtR)

Hypogammaglobulinemia Class G Is Present in Compensated and Decompensated Patients with Propionate Defects, Independent of Their Nutritional Status

A higher bacterial inward BCAA transport driven by Faecalibacterium prausnitzii is associated with lower serum levels of BCAA in early adolescents

The BMI Z-Score and Protein Energy Ratio in Early- and Late-Diagnosed PKU Patients from a Single Reference Center in Mexico

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

Conventional Phenylketonuria Treatment

An Amino Acid Signature Associated with Obesity Predicts 2-Year Risk of Hypertriglyceridemia in School-Age Children

Fórmulas metabólicas disponibles en México para pacientes con fenilcetonuria

Targeted Metabolomics Revealed a Sex-Dependent Signature for Metabolic Syndrome in the Mexican Population

An early prediction model for gestational diabetes mellitus based on metabolomic biomarkers

Actualización sobre la lactancia materna en los recién nacidos con errores innatos del metabolismo intermediario

P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program

High Iodine Urinary Concentration Is Associated with High TSH Levels but Not with Nutrition Status in Schoolchildren of Northeastern Mexico

A Multi-Omic Analysis for Low Bone Mineral Density in Postmenopausal Women Suggests a Relationship between Diet, Metabolites, and Microbiota

Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico

A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism

Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose-galactose transporter SLC5A1

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening

Serum Metabolite Profile Associated with Sex-Dependent Visceral Adiposity Index and Low Bone Mineral Density in a Mexican Population

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